bims-mitdis Biomed News
on Mitochondrial disorders
Issue of 2026–09–13
sixty-one papers selected by
Catalina Vasilescu, Helmholz Munich



  1. Brain Dev. 2026 Sep 11. pii: S0387-7604(26)00091-4. [Epub ahead of print]48(6): 104590
       BACKGROUND: POLG encodes mitochondrial DNA (mtDNA) polymerase γ. Pathogenic POLG variants cause mitochondrial diseases, including progressive external ophthalmoplegia. POLG-related disorders are relatively common in Europe, possibly because of the high prevalence of carriers in the general population, but remain rare in Japan for unclear reasons.
    METHODS: We performed long-range PCR on mtDNA from skeletal muscle and/or peripheral blood from 3146 patients with suspected mitochondrial disease between 1993 and 2021. We selected 167 individuals with clinical features suggestive of POLG-related disorders for POLG gene analysis; all lacked pathogenic mtDNA point mutations, and most had multiple mtDNA deletions and/or a family history of mitochondrial disease.
    RESULTS: Among the 167 patients (median age: 52 years, range: 0-83 years, 11% pediatric cases), we identified 12 Japanese patients with POLG-related disorders and six POLG variants, including one novel variant. The six variants were p.Y955C, p.R943H, p.T599I, p.M299L, p.Y1210* (c.3626_3629dupGATA), and the novel variant p.F377S (c.1130T>C). Neither these six variants nor the 10 previously reported cases from Japan included the POLG variants that are more frequent in Europe. We also analyzed three population databases: two whole-genome sequencing databases covering 61,000 and 9850 Japanese individuals, respectively, and one global population database (gnomAD) covering 730,000 individuals worldwide. POLG variants that are more frequent in Europe were not detected in the Japanese databases or among East Asian individuals in gnomAD.
    CONCLUSIONS: Our findings suggest population-specific genetic differences in POLG between Japanese and European populations, explaining the lower frequency of POLG-related disorders in Japan.
    Keywords:  CPEO; Mitochondrial DNA; POLG; Population genetics; Whole genome sequencing analysis
    DOI:  https://doi.org/10.1016/j.braindev.2026.104590
  2. Biochim Biophys Acta Mol Cell Res. 2026 Sep 06. pii: S0167-4889(26)00119-9. [Epub ahead of print]1873(8): 120220
      Mitochondria are central hubs of cellular metabolism that harbor their own genome (mtDNA), whose maintenance is essential for both cellular and organismal homeostasis. Unlike nuclear DNA, mtDNA replicates continuously throughout the cell cycle, rendering it particularly sensitive to changes in metabolic state. Emerging evidence indicates that mtDNA homeostasis is not governed solely by dedicated replication factors but is tightly coupled to cellular metabolism. In this review, we discuss how metabolic networks shape mtDNA maintenance through three interconnected layers: mitochondrial nucleotide pools, metabolic control of the replication machinery, and stress-response pathways. This conceptual framework underscores the direct role of metabolic state in governing mtDNA replication, stability, and quality control, with significant implications for mitochondrial disease and therapeutic strategies.
    Keywords:  Integrated stress response (ISR); Metabolism; Mitochondrial DNA (mtDNA); Mitochondrial diseases; Nucleotides; Replication machinery
    DOI:  https://doi.org/10.1016/j.bbamcr.2026.120220
  3. Metab Brain Dis. 2026 Sep 09. pii: 211. [Epub ahead of print]41(1):
      Primary coenzyme Q10 deficiencies (COQ10D) are rare mitochondrial disorders caused by pathogenic variants in genes involved in coenzyme Q10 (CoQ10) biosynthesis, leading to impaired mitochondrial respiration and heterogeneous neurological phenotypes. In this study, we identified and functionally characterized novel recessive variants in COQ2 and COQ4 using whole-exome sequencing. One proband carried a homozygous COQ2 variant (c.1039 A > G; p.Ser347Gly), while the second harbored compound heterozygous COQ4 variants (c.238 C > T; p.Arg80Cys and c.380del; p.Tyr127PhefsTer7). Variant segregation was confirmed by Sanger sequencing, and in silico protein modelling predicted deleterious structural effects. Mitochondrial function was assessed in freshly isolated platelets from probands, family members, and healthy controls using high-resolution respirometry. The COQ2 proband showed increased proton leak and reduced ATP-linked respiration, indicating uncoupled oxidative phosphorylation, whereas the COQ4 proband, already receiving CoQ10, showed near-normal mitochondrial function. Following three months of CoQ10 supplementation, the COQ2 proband showed significant improvement in ATP synthesis and reduced proton leak, accompanied by clinical neurological improvement. mRNA expression analysis revealed feedback regulation, while protein levels of ETC complexes I-V remained unchanged. Importantly, CoQ10 supplementation in healthy individuals did not alter mitochondrial respiration, confirming the specificity of therapeutic benefit in COQ10Ds. Overall, in addition to expanding the genetic spectrum of COQ10Ds, this study also provides functional evidence that defective mitochondrial function in these conditions is, at least in part, reversible with targeted CoQ10 therapy, underscoring the importance of early genetic diagnosis and timely initiation of CoQ10 supplementation.
    Keywords:   COQ2 ; COQ4 ; COQ10D; Coenzyme Q10 ; Mitocondrial respiration; Primary CoQ10 deficiency
    DOI:  https://doi.org/10.1007/s11011-026-01983-w
  4. EMBO Mol Med. 2026 Sep 08.
      Genome sequencing is the first-line diagnostic method for primary mitochondrial diseases (PMDs), yet its effectiveness is limited by variants of uncertain significance or unresolved genetic findings. We systematically evaluated the clinical performance of fibroblast-based functional testing, comprised of respiratory chain enzyme assays, blue native polyacrylamide gel electrophoresis with in-gel activity staining (BN-PAGE), complex I assembly assay, and targeted protein abundance assessments, in a cohort of 204 genetically confirmed PMD patients, 51 healthy controls, and 53 patients with differential diagnoses. Individually, enzyme assays, BN-PAGE, and complex I assembly assay showed sensitivities of 46%, 40%, and 49%, with specificities of 93%, 98%, and 99%, respectively. Combined, the assays achieved an overall sensitivity of 76%, a specificity 93%, a positive predictive value 96%, and a negative predictive value of 67%. Sensitivity was highest for isolated respiratory chain deficiencies, nuclear DNA-encoded mitochondrial translation defects, cofactor deficiencies, and mitochondrial aminoacyl-tRNA synthetase disorders, whereas mitochondrial DNA variants and maintenance defects remained challenging. Secondary mitochondrial dysfunction was rare. The strong clinical utility of comprehensive fibroblast functional testing improves PMD diagnosis when used complementary to genomic sequencing.
    DOI:  https://doi.org/10.1038/s44321-026-00497-3
  5. Trends Pharmacol Sci. 2026 Sep 12. pii: S0165-6147(26)00206-3. [Epub ahead of print]
      Mitochondrial quality control is essential for maintaining cellular and tissue homeostasis. Mitophagy, the selective autophagic removal of damaged mitochondria, is a central component of this process, and defects in mitophagy are increasingly linked to neurodegeneration, cardiovascular disease, cancer, and inherited mitochondrial disorders. Ubiquitin-dependent tagging of outer mitochondrial membrane proteins is a major mechanism for marking damaged mitochondria for clearance; however, recent advances reveal that mitochondrial deubiquitinases (DUBs) shape ubiquitin signaling at damaged mitochondria, thereby influencing the efficiency and selectivity of mitochondrial turnover. Moreover, DUBs are emerging as context-dependent editors of the mitochondrial ubiquitin code that link mitophagy to disease pathogenesis and therapeutic intervention. Here, we synthesize current understanding of mitochondrial DUBs in physiology and disease and discuss emerging pharmacological strategies to guide the development of mitophagy-targeted therapeutics.
    DOI:  https://doi.org/10.1016/j.tips.2026.08.009
  6. Ther Adv Rare Dis. 2026 Jan-Dec;7:7 26330040261478640
      The inaugural United Mitochondrial Disease Foundation (UMDF) Mitochondrial Medicine 2025 Masterclass focused on primary mitochondrial diseases (PMDs) especially primary mitochondrial myopathies (PMMs) and thymidine kinase 2 deficiency (TK2d). The Masterclass featured leading US experts in the field, providing the latest scientific and clinical knowledge, as well as patients and caregivers sharing their lived experience of mitochondrial diseases. In this report, we summarize the key highlights of each presentation. An overview of PMM featuring the etiologies of different PMMs and key features of notable PMMs, was followed by a presentation discussing the practical clinical processes of diagnosing PMM, how the roles of clinicians have evolved as diagnostic technology has improved, and actions clinicians can take to maximize the chances of an early, accurate diagnosis. Real-world case studies highlighted variations in disease presentation among the wide range of PMMs, which was followed by an in-depth review of clinical assessments and symptom management for PMM across organ systems. Multisystemic disorders like PMM require multidisciplinary management, in both a chronic and acute setting, and two experts discussed the practical workflow for clinicians to build a multidisciplinary model of care at their hospitals, the roles and responsibilities of the lead coordinator and each subspecialist, and practical steps that clinicians can take to manage acute care coordination and decrease acute care utilization. A hypothetical case study of TK2d (based on real patients) brought together the different aspects of PMM discussed during the Masterclass, while the patient perspective presentations allowed patients and caregivers to discuss the real-world impact that the diagnostic and care journey had on them and their families. This Educational Masterclass provided detailed knowledge of PMM designed to provide the next generation of clinicians and investigators with practical, actionable guidance and resources they could utilize to make a difference in the lives of patients with PMM.
    Keywords:  TK2d; mitochondrial disease; mitochondrial myopathy
    DOI:  https://doi.org/10.1177/26330040261478640
  7. Ther Adv Rare Dis. 2026 Jan-Dec;7:7 26330040261480132
       Introduction: Mitochondrial diseases are multisystem disorders in which defects in oxidative phosphorylation disrupt cellular bioenergetics and redox signaling across the vasculature and heart. Because mitochondrial function is closely linked to endothelial nitric oxide (NO) production, we hypothesized that mitochondrial diseases manifest as a NO-deficiency endotheliopathy affecting conduit and microvascular function. To evaluate this, we performed a systematic review with quantitative synthesis of human studies reporting vascular reactivity, biochemical NO production, or myocardial metabolic imaging, aiming to define the magnitude of impairment and responsiveness to NO-precursor therapy (l-arginine or l-citrulline).
    Methods: Following PRISMA 2020 guidelines, we conducted a comprehensive search (inception-October 2025) identifying clinical studies of genetically or clinically confirmed mitochondrial disease with quantitative endothelial or bioenergetic endpoints. Eligible measures included flow-mediated dilation (FMD), reactive hyperemia index (RHI), passive-leg-movement (PLM) hyperemia, absolute synthesis rate of NO metabolites (ASR NOm), and positron emission tomography (PET)-derived myocardial oxidative indices (k mono , DP/k mono ). Quantitative synthesis used Hedges g for between-group comparisons and standardized mean change (SMC) for within-subject responses. Risk of bias was evaluated using ROBINS-I and a modified Newcastle-Ottawa Scale.
    Results: Seven studies met these inclusion criteria, comprising 76 mitochondrial-disease subjects and 81 controls (ages 8-63 years). Across all vascular and metabolic domains, mitochondrial disease was associated with marked endothelial and bioenergetic impairment. Macro- and microvascular dysfunction, reflected by reduced FMD, RHI, and PLM hyperemia, demonstrated severe endothelium-specific abnormalities. Biochemical assays showed diminished NO synthesis. Myocardial PET imaging revealed reduced oxidative rate constants and increased energetic inefficiency despite preserved perfusion. Nitric oxide synthesis-precursor therapy was associated with improved endothelial reactivity (increased FMD, RHI, and ASR NOm) and significant, modest improvements in myocardial oxidative metabolism, consistent with partial restoration of endothelial NO signaling. Effect sizes collectively supported a reversible NO-deficiency endotheliopathy. The risk-of-bias assessment indicated moderate-to-good methodological quality, with limitations primarily related to small sample sizes and nonrandomized designs.
    Conclusions: Mitochondrial disease is characterized by significant impairments in vascular reactivity, NO signaling, and myocardial bioenergetics. Improvements in endothelial function and NO synthesis following l-arginine or l-citrulline supplementation are consistent with a role for impaired endothelial NO signaling in the vascular manifestations of mitochondrial disease. These findings highlight the vascular endothelium as a potential therapeutic target and underscore the need for future clinical intervention trials that use standardized vascular and bioenergetic endpoints.
    Keywords:  and stroke-like episodes (MELAS); flow mediated dilatation; lactic acidosis; mitochondrial disease; mitochondrial dysfunction; mitochondrial encephalomyopathy; nitric oxide; vascular endothelium
    DOI:  https://doi.org/10.1177/26330040261480132
  8. Expert Rev Neurother. 2026 Sep 07. 1-4
      
    Keywords:  Leigh syndrome; Leigh syndrome spectrum; mitochondrial DNA; mitochondrial disease; neurodegeneration
    DOI:  https://doi.org/10.1080/14737175.2026.2725112
  9. Transl Pediatr. 2026 Aug 31. 15(8): 355
       Background: Reversible infantile respiratory chain deficiency (RIRCD) is a rare mitochondrial myopathy caused by homoplasmic MT‑TE m.14674T>C/G variants, characterized by severe infantile onset followed by spontaneous recovery. Nuclear modifiers are thought to modulate its incomplete penetrance, but evidence for digenic inheritance remains limited. We aim to analyze the clinical, genetic, and prognostic features of RIRCD, explore the roles of nuclear modifiers and digenic inheritance.
    Case Description: We report three Chinese RIRCD patients carrying the homoplasmic m.14674T>C variant. All presented with recurrent respiratory infections and feeding difficulties, with gradual developmental recovery after 1 year of age. Notably, we report a case of a homoplasmic m.14674T>C variant (maternal) and a pathogenic EARS2 heterozygous variant (paternal), indicating digenic inheritance of EARS2. Additionally, we report another case of a homoplasmic m.14674T>C variant and a maternally inherited CLCN4 variant associated with language delay and autistic features after recovery from RIRCD, suggesting the presence of additional modifiers or comorbidities. Among 52 published cases and our 3 new cases, 92.16% of cases had onset within 3 months, 85.55% had neuromuscular symptoms, 70.91% required nasogastric feeding, and 43.63% needed mechanical ventilation. Elevated lactate and creatine kinase levels, ragged-red fibers, and mitochondrial ultrastructural abnormalities in muscle biopsies were common pre-recovery. Respiratory chain deficiencies included isolated complex IV and combined I + IV defects. Prognosis was favorable (32.00% full recovery, 58.00% mild residual myopathy). Twenty-four cases (43.64%) had nuclear modifiers, including EARS2 (n=9) and TRMU (n=6).
    Conclusions: RIRCD is a rare mitochondrial myopathy caused by mitochondrial DNA (mtDNA) variants with penetrance regulated by nuclear modifiers. Digenic inheritance contributes to phenotypic heterogeneity, supporting precise diagnosis and future therapy.
    Keywords:  Mitochondrial disease; case report; digenic inheritance; mitochondrial myopathy; reversible infantile respiratory chain deficiency (RIRCD)
    DOI:  https://doi.org/10.21037/tp-2026-0512
  10. JCI Insight. 2026 Sep 08. pii: e209108. [Epub ahead of print]
      Mutations in mitochondrial DNA (mtDNA) cause various mitochondrial diseases that are currently incurable. Allotopic expression of nuclear-recoded mitochondrial genes represents a promising therapeutic strategy, given its demonstrated capacity to restore mitochondrial function in human cell models harboring mtDNA mutations. However, the in vivo evaluation of allotopic gene therapy has been hindered by optimization challenges and the lack of appropriate animal models. Here, we overcome these limitations by utilizing an optimized AAV2-ND6 construct with codon optimization and mitochondrial targeting sequence in a mouse model bearing the homoplasmic ND6P25L mutation, which recapitulates Leber hereditary optic neuropathy (LHON). High-dose administration of the AAV2-ND6 construct resulted in robust, sustained expression within the retina and optic nerve without apparent systemic toxicity. Strikingly, We compared the therapeutic efficacy in mutant mice at different ages and pre-symptomatic intervention with AAV2-ND6 effectively attenuated disease progression, mitigated retinal cellular deficiencies and optic nerve damage, and restored visual function in ND6P25L mice. Mechanistically, allotopic ND6 expression markedly rescued the mitochondrial dysfunction, corrected dysregulated retinol metabolism and phototransduction pathways, and suppressed apoptotic processes in the mutant retina. Our study validates the safety and therapeutic potential of allotopic expression in vivo and provide critical mechanistic insights into its role in treating LHON and other mitochondrial diseases.
    Keywords:  Gene therapy; Genetics; Mitochondria; Ophthalmology; Retinopathy
    DOI:  https://doi.org/10.1172/jci.insight.209108
  11. Proc Natl Acad Sci U S A. 2026 Sep 15. 123(37): e2537797123
      Of the ~1,100 mitochondrial proteins, only a handful like PINK1 and ATFS-1 are known to stabilize and relocalize upon collapse of the proton motive force (PMF) to execute signaling roles. To systematically identify genes that increase exclusively at the protein level upon PMF collapse, we performed a joint proteomic and RNA-seq screen. The screen revealed 10 candidates (six mitochondrial), including two genes in vitamin B12 metabolism - the B12 chaperone MMADHC and cytosolic B12-dependent 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR). MMADHC is short-lived across cell types and we show that its levels increase with PMF collapse. MMADHC stabilization precedes PINK1 activation in a time course of increasing mtDNA depletion, suggesting greater sensitivity to PMF collapse. MMADHC accumulates in mitochondria with LONP1 inhibition but in the cytosol upon PMF collapse, likely due to mitochondrial import failure. Cytosol-stabilized MMADHC increases MTR levels and activity. Altogether, the mitochondrial PMF regulates the cytosolic B12-dependent MTR, integral to one-carbon metabolism, by controlling the stability and compartmentalization of the B12 chaperone MMADHC.
    Keywords:  MMADHC; methionine synthase; mitochondria; proton motive force; vitamin B12
    DOI:  https://doi.org/10.1073/pnas.2537797123
  12. Cell Mol Neurobiol. 2026 09 05. pii: 136. [Epub ahead of print]46(1):
      Mitochondria integrate metabolic, signalling, and quality-control pathways that are critical for neuronal and glial homeostasis. Beyond ATP production, they regulate redox balance, calcium dynamics, proteostasis, innate immune signalling, and the molecular pathways governing cell survival and death. This Closing Editorial synthesizes the main advances reported in this Collection across neurodegeneration, neurodevelopmental vulnerability, inherited mitochondrial disorders, neurotrauma, drug-induced neurotoxicity, and neuroimmune regulation. Collectively, these studies establish mitochondrial dysfunction as a heterogeneous and context-dependent process rather than a uniform or secondary consequence of neurological disease. Mitochondrial alterations are dynamically regulated across cell types, subcellular compartments, and disease stages, and are tightly coupled to inter-organelle communication and cellular stress-response pathways. The contributions highlight convergent mechanisms linking astrocytic mitochondrial DNA damage, dysregulated RNA-binding proteins, altered mitochondria-endoplasmic reticulum contacts, disrupted iron and redox homeostasis, and mitochondrial-inflammatory signalling to neuronal vulnerability and impaired circuit integrity. They also identify potential therapeutic targets while defining key unresolved questions, particularly the need to establish mechanistic causality, delineate cell- and compartment-specific mitochondrial responses, and validate findings using clinically relevant models and outcome measures. Overall, this Collection positions mitochondrial biology as a mechanistic framework connecting metabolic dysfunction, cellular stress, neuroinflammation, and neuronal degeneration, and supports its development as a therapeutic target for disease-modifying interventions in neurological disorders.
    Keywords:  Glia; Mitochondria; Mitochondrial–ER contacts; Neurodegeneration; Neuroinflammation; Neuroprotection; Precision medicine; Redox biology
    DOI:  https://doi.org/10.1007/s10571-026-01822-7
  13. Front Cell Dev Biol. 2026 ;14 1929130
      Although the mitochondria are known as the cellular powerhouse, their function is beyond energy generation. These organelles regulate cellular metabolism, yet maintains a tightly regulated reactive oxygen species (ROS) generation and optimal redox state. In addition, mitochondria serve as mediators of physiological and pathological processes, such as maintenance of calcium balance, and control of apoptosis and mitophagy. All these make the mitochondria a major factor in both cellular and organismal regulation. However, mitochondria dysfunction may occur through many processes, including genetic mutations, increased production of ROS, metabolic failure from impaired electron transport chain activity, and dysregulated dynamics or mitophagy. Several self-perpetuating damages accumulate from these processes and influence clinical pathologies, such as aging, metabolic syndrome, cancer, neurodegeneration, and reproductive disorders. Recent studies demonstrate promising therapeutic targets for mitochondrial dysfunction. Examples include targeted antioxidants, such as MitoQ and SkQ1, to selectively neutralize mitochondrial ROS, pharmacological modulators to enhance mitochondrial biogenesis and to restore NAD+ homeostasis via PGC-1α activation, gene-editing technologies, such as mitoTALENs and mtZFNs to selectively eliminate pathogenic mitochondrial DNA mutations, and mitochondrial transplantation as a new technique to replace damaged organelles. Together, these novel approaches highlight the need for research in mitochondrial function to change the therapeutic landscape in the management of mitochondrial dysfunction-associated diseases.
    Keywords:  ROS; mitochondria; mitochondrial dysfunction; mitochondrial transplantation; mitophagy; oxidative phosphorylation
    DOI:  https://doi.org/10.3389/fcell.2026.1929130
  14. J Biol Chem. 2026 Sep 07. pii: S0021-9258(26)02390-2. [Epub ahead of print] 113518
      Heme is an essential iron-containing cofactor that supports diverse biological processes, including oxygen transport, mitochondrial respiration, and xenobiotic metabolism. Beyond these canonical functions, accumulating evidence has established heme as a dynamic signaling molecule that couples mitochondrial metabolic state to cellular stress responses, gene expression, and metabolic adaptation. Heme biosynthesis is compartmentalized between mitochondria and the cytosol, requiring tightly coordinated synthesis, trafficking, sensing, and degradation to maintain cellular homeostasis and prevent heme toxicity. In this review, we examine mechanisms by which heme regulates mitochondrial protein quality control, respiratory chain assembly, and metabolic feedback to coordinate organellar function with cellular energy demands. We further discuss how heme is trafficked to extramitochondrial compartments, where it modulates cytoplasmic stress signaling, iron homeostasis, transcriptional networks, and metabolic programs through interactions with proteins, including the BACH1 transcription factor, REV-ERB nuclear receptors, and the glycolytic enzyme GAPDH. We also highlight ongoing debates surrounding mitochondrial heme trafficking and identify critical unanswered questions regarding the identity of intracellular heme chaperones and mitochondrial heme sensors. Finally, we discuss how dysregulation of heme synthesis, trafficking, sensing, and degradation contributes to diverse pathologies. Collectively, recent advances establish heme as a central regulator of mitochondrial communication and cellular homeostasis, underscoring the therapeutic potential of targeting heme signaling pathways in human disease.
    Keywords:  heme; iron; mitochondria; oxidative stress; porphyrin; unfolded protein response
    DOI:  https://doi.org/10.1016/j.jbc.2026.113518
  15. Proc Natl Acad Sci U S A. 2026 Sep 15. 123(37): e2600754123
      Protein Kinase A (PKA) Regulatory RIα cysteine redox state regulates docking to D-AKAP1 and may control Drp1 phosphorylation, a principal mediator of mitochondrial fission. RIα C17S knock-in (KI) mice, unable to form disulfides and therefore mimicking the reduced kinase, exhibited enlarged dysfunctional mitochondria. Unexpectedly, this abnormal mitochondrial morphology, which was accompanied by reduced respiration, decreased membrane potential, increased reactive oxygen species and impaired treadmill performance, was not explained by altered Drp1 Ser637 phosphorylation. Transcriptomic analysis revealed decreased mitochondrial biogenesis without loss of total mitochondrial mass, consistent with impaired mitochondrial turnover. KI cells showed impaired lysosomal proteolysis, altered lysosomal calcium homeostasis, reduced RIα-lysosome colocalization and markedly diminished TRPML1 abundance. Pharmacological modulation of lysosomal calcium pathways restored lysosomal calcium signaling in KI cells, whereas activation of TRPML1 signaling impaired mitochondrial respiration in wildtype cells toward KI levels. Together, these findings support a role for disulfide-RIα in coordinating lysosomal calcium signaling and mitochondrial quality control, such that loss of this oxidation state promotes accumulation of dysfunctional mitochondria.
    Keywords:  PKA; calcium; lysosome; mitochondria; redox
    DOI:  https://doi.org/10.1073/pnas.2600754123
  16. J Biol Chem. 2026 Sep 08. pii: S0021-9258(26)02411-7. [Epub ahead of print] 113539
      The force-generating ATPases Associated with diverse cellular Activities (AAA+) ATPase domain of protein unfoldases is specified for many substrates and other functional partners through elaboration with accessory domains. Mitochondrial homologs of the unfoldase ClpX contain an insertion within the AAA+ domain that is absent in bacterial homologs. This mitochondrial insertion (MI) maps to the substrate-encountering face of ClpX, leading us to hypothesize that the MI directs interactions of ClpX with mitochondrial substrates, the best-characterized of which is the first enzyme in heme biosynthesis, 5-aminolevulenic acid synthase (ALAS). We find that the MI is critical for both recruitment and activation of ALAS by S. cerevisiae ClpX. The MI was dispensable for heme-induced, adaptor-mediated degradation of ALAS by the human CLPX-CLPP protease complex (CLPXP), but contributed to adaptor-independent recruitment of the model substrate casein for degradation. Although truncation of the MI moderately perturbed ATPase activity in both yeast and human ClpX, this effect could be uncoupled from the requirement for the MI in the efficiency of ALAS activation by targeted mutagenesis. The MI therefore can serve both to recruit a substrate to mitochondrial ClpX and to accelerate its processing by the AAA+ motor.
    Keywords:  ATP-dependent protease; ATPase Associated with Diverse Cellular Activities (AAA); adaptor protein; enzyme kinetics; heme; mitochondria; protein degradation
    DOI:  https://doi.org/10.1016/j.jbc.2026.113539
  17. Diabetes Metab J. 2026 Sep;50(5): 825-843
      Sarcopenia in type 2 diabetes mellitus is increasingly recognized as a mechanistic consequence of chronic metabolic stress rather than mere age-related comorbidity. This review synthesizes evidence demonstrating how insulin resistance, hyperglycemia, lipotoxicity, and inflammation converge on skeletal muscle mitochondrial proteostasis to drive progressive decline. We evaluate seven pathway modules-mitochondrial dynamics, mitophagy, biogenesis, oxidative phosphorylation, nicotinamide adenine dinucleotide (NAD+)/sirtuin (SIRT)-linked regulation, protein import, and the mitochondrial unfolded protein response (UPRmt)-across an evidence map encompassing basic, clinical, and multi-omics studies. Dynamics and mitophagy represent mechanistically central quality-control nodes; their impairment permits dysfunctional organelle accumulation and promotes atrophic cascades. Direct evidence density, however, remains weighted toward oxidative phosphorylation and mitochondrial biogenesis. NAD+/SIRT-linked regulation, protein import fidelity, and UPRmt represent mechanistically upstream but comparatively underinvestigated signals. We propose a diabetes-centered framework where mitochondrial proteostasis failure mediates atrophy and reinforces insulin resistance via a self-amplifying feed-forward loop, supported by pathway responsiveness to coherent interventions. Human multi-omics data highlight network-level dysregulation rather than isolated defects, underscoring module-based biomarker strategies. Translationally, exercise remains the mechanistic cornerstone, while pathway-directed adjuncts-NAD+ precursor repletion, mitophagy modulators, and emerging pharmacotherapeutics-are warranted for patients with identifiable module-specific failure patterns.
    Keywords:  Diabetes mellitus, type 2; Mitophagy; Multiomics; Muscle, skeletal; Proteostasis; Sarcopenia
    DOI:  https://doi.org/10.4093/dmj.2026.0310
  18. Kidney Int Rep. 2026 Oct;11(10): 106999
      Oxidative phosphorylation (OXPHOS) is the main source of cellular adenosine triphosphate (ATP) production and depends on proteins encoded by both mitochondrial and nuclear DNA (nDNA). Pathogenic variants affecting this dual genetic control cause primary mitochondrial disorders (MIDs), which follow either maternal inheritance when they affect mitochondrial DNA (mtDNA) or autosomal inheritance when they affect nuclear-encoded mitochondrial proteins. Once considered predominantly pediatric conditions, these disorders are increasingly recognized in adults where their clinical presentation is heterogeneous and frequently underdiagnosed, requiring the involvement of various medical specialties.Because of their high energy requirements, kidneys are particularly vulnerable to primary MIDs. Tubular epithelial cells rely on OXPHOS for solute transport, whereas podocytes require sustained ATP production to preserve the glomerular filtration barrier. Although kidney involvement in adult primary MIDs has long been regarded as rare, emerging data indicate that primary MIDs-associated nephropathy (MIDAN) is more common than previously appreciated, yet remains under-recognized, as a cause of adult kidney disease. Renal manifestations include a broad spectrum of glomerular disorders-predominantly focal segmental glomerulosclerosis (FSGS), often associated with diabetes mellitus and sensorineural hearing impairment-as well as tubulo-interstitial nephritis (TIN), which may present as an isolated renal phenotype or as part of a multisystemic disorder.Advances in next-generation sequencing, including mitochondrial genome sequencing and exome or whole-genome sequencing, are transforming the diagnostic approach to MIDAN. Improved recognition of mitochondrial etiologies in adults with unexplained glomerular or tubulo-interstitial kidney disease is essential to optimize diagnosis, management, and genetic counseling.
    Keywords:  adult; glomerular disease; kidney disease; mitochondrial disorders; tubulo-interstitial nephritis
    DOI:  https://doi.org/10.1016/j.ekir.2026.106999
  19. Nat Commun. 2026 Aug 13. pii: 9729. [Epub ahead of print]17(1):
      Certain forms of mitochondrial impairment confer longevity, while disease-associated mitochondrial dysfunction triggers pathogenesis. The adaptive pathways that distinguish benefit from pathology remain unclear. Here we reveal that longevity induced by mitochondrial Complex I/nuo-6 mutation in C. elegans is dependent on the endoplasmic reticulum (ER) Ca2+ channel, InsP3R. To explain this connection, we test multiple candidate links between Ca2+ and mitochondrial homeostasis previously established in vitro, including mitochondrial calcium uniporter (MCU)-dependent stimulation of respiration and cytosolic pathways regulating mitochondrial dynamics. We find that MCU is dispensable for both respiration and longevity in Complex I mutants. Conversely, transcriptomic profiling and imaging reveal InsP3R impairment results in maladaptive expansion of compromised mitochondrial networks. We provide evidence that this aberrant mitochondrial expansion results from disruption of a conserved, InsP3R-dependent actin remodeling network centered on Arp2/3. Disruption of actin remodeling or autophagy mimics the mitochondrial expansion and longevity suppression of InsP3R mutants. Conversely, driving mitochondrial fragmentation ameliorates mitochondrial expansion and rescues longevity in InsP3R mutants, supporting a model in which InsP3R-dependent actin remodeling is required for segregation and clearance of mitochondria. These findings identify an inter-organelle signaling axis linking ER calcium release and cytoskeletal remodeling to adaptive mitochondrial responses associated with longevity.
    DOI:  https://doi.org/10.1038/s41467-026-76514-3
  20. JIMD Rep. 2026 Sep;67(5): e70125
      Mitochondrial disease is a common inherited multisystem neurometabolic disorder. Pancreatic dysfunction is a recognised manifestation, most frequently presenting as mitochondrial diabetes. Although pancreatitis cases have been reported in association with mitochondrial disease, acute and chronic pancreatitis in this context remain poorly characterised. Following the PRISMA framework, we performed a systematic literature review to identify all published cases in which acute or chronic pancreatitis occurred in individuals with a genetically confirmed mitochondrial disease. Literature search yielded 604 publications, of which 19 fit the inclusion criteria. During revision two additional publications were identified, one of which fit the inclusion criteria. These 20 reports described 24 individuals with mitochondrial disease and documented history of acute or chronic pancreatitis. Mean age at first recorded pancreatitis was 13 years, with median age 10 years (range 3 months to 53 years). Pancreatitis was recurrent or chronic in 63% of cases. The most reported presenting symptoms were abdominal pain (38%) and vomiting (33%). None had established pancreatitis risk factors such as gallstones or alcohol misuse. In those who underwent imaging, no structural abnormalities of the pancreas or biliary tree were identified. Most frequent genetic aetiologies were large-scale mitochondrial DNA (mtDNA) deletions and the m.3243A>G mtDNA variant (29% each). Six patients (25%) died shortly after hospital admission with pancreatitis. Pancreatitis associated with mitochondrial disease often presents in childhood and is frequently recurrent or chronic. Although uncommon, it represents a clinically significant and potentially life-threatening complication that warrants increased awareness.
    Keywords:  m.3243A>G; mitochondrial DNA; mitochondrial disease; pancreatitis; systematic review
    DOI:  https://doi.org/10.1002/jmd2.70125
  21. Biogerontology. 2026 Sep 10. pii: 160. [Epub ahead of print]27(5):
      Mitochondria integrate bioenergetics, redox signalling, calcium handling, biosynthesis, apoptosis, and stress responses. Their contribution to ageing depends less on any single pathway than on the ability to sustain these functions through continuous maintenance, remodelling, and inter-organelle communication. This review proposes mitochondrial homeodynamics as a systems-level framework for that ability, which rests not on static preservation but on three linked capacities. Maintenance safeguards mitochondrial genome, proteome, and membrane integrity. Adaptation adjusts metabolism and remodels network and cristae architecture to match changing demand. Recovery restores function and reserve after challenge. These capacities emerge from mitochondrial quality control, network and cristae remodelling, biogenesis, mitophagy, retrograde stress signalling, and inter-organelle communication. So defined, mitochondrial dysfunction becomes a measurable loss of capacity rather than a descriptive category. Ageing erodes these capacities in tissue- and context-specific ways, which reduces physiological reserve, slows recovery after stress, and amplifies sterile inflammation. The mechanisms underlying these capacities, the biomarkers that report them, and the interventions proposed to preserve them are evaluated in turn. Exercise provides the strongest human evidence for coordinated mitochondrial and functional adaptation, whereas evidence for energy restriction, NAD+ precursors, mitophagy-supporting compounds, and mitochondria-targeted agents remains heterogeneous and endpoint-specific. No mitochondrial intervention has been shown to slow ageing or extend lifespan in healthy humans, and movement of a biomarker towards a younger reference value does not establish rejuvenation. Progress will require dynamic measures of maintenance, adaptation, and recovery, obtained in defined tissues and interpreted alongside clinically meaningful outcomes.
    Keywords:  Ageing; Biomarkers; Exercise; Homeodynamics; Inflammageing; Mitochondria; Mitophagy
    DOI:  https://doi.org/10.1007/s10522-026-10506-0
  22. Sci Adv. 2026 Sep 11. 12(37): eaee4935
      The cell nucleus is an active metabolic site. Numerous enzymes best known for their roles in cytosolic or mitochondrial pathways also function in the nucleus, where they contribute to gene regulation and DNA replication and repair. Although metabolites can diffuse through nuclear pores, it remains unclear the extent to which the nucleus and cytosol operate as continuous versus distinct metabolic spaces. Both compartments require acetyl-CoA-for example, for histone acetylation and lipid synthesis-and the acetyl-CoA generating enzyme ATP-citrate lyase (ACLY) resides in both locations, but the significance of its dual localization is incompletely understood. Using cell lines in which ACLY is localized to either compartment, we find that ACLY in either location supports fatty acid synthesis and histone acetylation, yet compartment-localized ACLY enables finer control. Nuclear ACLY preserves histone H3K23 acetylation under glucose limitation and modulates specific transcriptional programs, whereas cytosolic ACLY most efficiently supports lipid biosynthetic fluxes. Thus, local synthesis defines a preferential metabolic fate, providing more precise regulation.
    DOI:  https://doi.org/10.1126/sciadv.aee4935
  23. Biochem Biophys Res Commun. 2026 Sep 02. pii: S0006-291X(26)01300-8. [Epub ahead of print]835 154536
      Mitochondrial calcium homeostasis is critical for bioenergetics, cell signaling, and cell survival and death, but its regulatory mechanism remains largely unknown. Here, a mitochondria-targeted genetically encoded calcium indicator has revealed that physiological concentrations of ascorbic acid (vitamin C) suppress mitochondrial calcium uptake in both intact living cells and permeabilized cells and enhance intracellular calcium signaling compared with ascorbate-deprived conditions. Mechanistic analyses indicate that this effect is mediated by a reduction in mitochondrial membrane potential, the primary driving force for mitochondrial calcium uptake. These findings uncover an unrecognized role of ascorbic acid in mitochondrial calcium homeostasis. Given the roles of mitochondrial calcium in neurodegeneration and cancer cell bioenergetics, our findings provide new insights into disease pathophysiology and potential therapeutic strategies.
    Keywords:  Ca(2+) signaling; Genetically encoded Ca(2+) indicator; Mitochondria-associated ER membranes; Mitochondrial Ca(2+) homeostasis; Mitochondrial Ca(2+) uniporter; Mitochondrial membrane potential
    DOI:  https://doi.org/10.1016/j.bbrc.2026.154536
  24. Front Cell Infect Microbiol. 2026 ;16 1878518
       Background: Sepsis is increasingly recognized as a syndrome of maladaptive bioenergetic failure in which mitochondrial dysfunction-rather than being a secondary epiphenomenon-acts as a central driver of immune paralysis, endothelial incoherence, and multiple organ injury. Three interconnected molecular lesions are particularly consequential: impairment of the pyruvate dehydrogenase complex (PDC), excessive mitochondrial reactive oxygen species (mtROS) generation, and defective mitophagy. These mechanisms disrupt substrate oxidation, amplify oxidative injury, and prevent effective organelle turnover, creating a self-reinforcing bioenergetic collapse that persists despite hemodynamic stabilization. Nutritional molecules that target these specific mitochondrial nodes may offer a rational adjunctive strategy, yet their mechanistic basis and translational evidence have not been systematically integrated.
    Methods: This mechanism‑driven review followed a PRISMA‑structured protocol to identify studies elucidating PDC impairment, mtROS excess, and mitophagy dysfunction in sepsis, as well as the therapeutic rationale for thiamine, carnitine, and coenzyme Q10 (CoQ10). We searched PubMed, Scopus, Web of Science, Cochrane Library, and ClinicalTrials.gov for English‑language literature published between January 1, 2005 and February 1, 2026. Eligible studies addressed mitochondrial dysfunction in sepsis, reported on at least one direct mitochondrial parameter (PDC activity, mtROS, mitophagy markers, membrane potential, or ATP), and evaluated the specified nutritional interventions. Of 1,324 initially identified records, 105 studies met inclusion criteria and were qualitatively synthesized.
    Results: Preclinical evidence establishes that PDC impairment-driven by thiamine pyrophosphate deficiency-reduces pyruvate oxidation and increases lactate diversion, while excessive mtROS activates the NLRP3 inflammasome and amplifies inflammation, and defective mitophagy allows damaged organelles to accumulate, sustaining bioenergetic failure. These lesions propagate across immune, endothelial, parenchymal, and cerebral compartments, manifesting as immune paralysis, microcirculatory dysfunction, cardiac and renal impairment, and sepsis‑associated encephalopathy. Thiamine supplementation restores PDC activity and improves lactate clearance; L‑carnitine facilitates mitochondrial fatty acid trafficking, with post‑hoc analyses suggesting mortality benefit in patients with baseline acetylcarnitine >35 µM; and CoQ10 stabilizes electron transport, with trials reporting reduced vasopressor duration and improved SOFA scores. However, human data remain limited to small trials and subgroup analyses, and no large‑scale randomized controlled trial has definitively established mortality benefit for any of these agents.
    Conclusion: Mitochondrial dysfunction-specifically PDC impairment, mtROS excess, and mitophagy failure-is a core mechanistic axis of sepsis that drives bioenergetic collapse across multiple organ systems. Thiamine, carnitine, and CoQ10 target complementary nodes within this integrated damage network and are mechanistically grounded interventions, but the field is constrained by biological heterogeneity, lack of routine biomarkers, and inconsistent clinical translation. Future progress will require biomarker‑stratified trials that match intervention to dominant mitochondrial lesion, incorporate direct mitochondrial function endpoints, and test these nutrients within defined septic phenotypes, rather than as undifferentiated supplements.Overall, I believe that the inclusion of one or two well-designed original figures would significantly strengthen the manuscript and make it more engaging and accessible to readers.
    Keywords:  bioenergetic homeostasis; mitochondrial dysfunction; mitochondrial reactive oxygen species; mitophagy; pyruvate dehydrogenase complex; sepsis
    DOI:  https://doi.org/10.3389/fcimb.2026.1878518
  25. J Inherit Metab Dis. 2026 Sep;49(5): e70244
      ATP synthase defects, including TMEM70 and MT-ATP6 deficiencies, cause severe mitochondrial encephalo-(cardio)-myopathies complicated by acute metabolic decompensations (AMDs) often associated with hyperammonaemia. However, detailed biochemical characterisation of these events remains limited. The aim of the study was to evaluate the metabolic profiles associated with TMEM70 and MT-ATP6 deficiencies during AMDs in comparison to stable metabolic conditions, assessing frequency and severity of hyperammonaemia, and exploring the mechanisms linking impaired mitochondrial ATP production to the urea cycle by in vivo ureagenesis studies, using [15N] ammonium chloride as stable isotope and assessed by high-resolution mass-spectrometry coupled with liquid chromatography. We retrospectively analysed clinical and biochemical profiles from two genetically confirmed cohorts. Patients with TMEM70 deficiency experienced more frequent AMDs, often with hyperammonaemia and requiring extracorporeal detoxification, while the MT-ATP6 cohort had more prominent neurological symptoms and a lower incidence of hyperammonaemia. Biochemically, both groups showed elevated lactate, alanine and glutamine, with orotic aciduria and abnormalities in purine/pyrimidine metabolism. Plasma citrulline levels were divergent in the two cohorts, with a consistent reduction in patients with MT-ATP6 deficiency and normal or borderline elevated levels in the TMEM70 cohort. In vivo stable isotope studies pointed to the differential impact of TMEM70 and MT-ATP6 deficiency on ureagenesis and on the enrichment of individual urea cycle-related amino acids. This study reveals that TMEM70 and MT-ATP6 deficiencies share features of mitochondrial dysfunction but present distinct metabolic profiles, highlighting a different impact on the urea cycle and its related metabolites, and providing novel insights on our understanding of mitochondrial pathophysiology.
    Keywords:  ATP synthase defects; MT‐ATP6; TMEM70‐related encephalo‐(cardio)‐myopathy; acute metabolic decompensation; urea cycle
    DOI:  https://doi.org/10.1002/jimd.70244
  26. J Physiol. 2026 Sep 11.
      Ageing affects mitochondrial integrity in skeletal muscle, and physical inactivity may further exacerbate these changes. Although mitochondrial alterations are documented in ageing and disuse independently, how disuse impacts the mitochondrial phenotype in older populations remains unclear. This work aimed to characterise how physical inactivity impacts mitochondrial function, morphology and gene expression in the skeletal muscle of older adults. Ten healthy older men (65+ years) underwent 10 days of bed rest. Skeletal muscle biopsies were collected before and after bed rest to assess mitochondrial respiration (high-resolution respirometry), H2O2 emission, mitochondrial protein expression, morphology and volume density (electron microscopy) and transcriptomic profile. Ten days of inactivity increased mitochondrial reactive oxygen species (ROS) emission under non-phosphorylating conditions but did not impair oxidative phosphorylation (OXPHOS) capacity, indicating preserved respiratory efficiency. Consistently, mitochondrial respiratory complex and supercomplex protein abundance were unchanged. Mitochondrial mass decreased, as shown by reduced mitochondrial volume density. Reduced dynamin-like protein 1 (DRP1) phosphorylation at serine 637 was observed, whereas other mitochondrial fission and fusion protein levels remained unchanged. Mitochondrial morphology remained unaltered. Transcriptomic analysis revealed >3000 differentially expressed genes, characterised by downregulation of oxidative phosphorylation genes alongside altered mitophagy, antioxidant and oxidoreductase pathways. In summary, 10-day bed rest increased mitochondrial ROS emission and reduced mitochondrial mass in older skeletal muscle despite preserved respiratory function, indicating that elevated ROS production occurs upstream of respiratory dysfunction and is potentially linked to impaired antioxidant defence and ROS clearance. These findings suggest that preserving redox balance during inactivity may be a key strategy to maintain muscle health and functional independence in ageing populations. KEY POINTS: The impact of short-term physical inactivity on mitochondrial function within the context of ageing remains poorly defined. This study examined the impact of 10-day bed rest on skeletal muscle mitochondrial function, morphology and gene expression in older adults. Short-term inactivity increased mitochondrial ROS production, accompanied by a dysregulation of antioxidant and oxidoreductase genes, indicating a reduced capacity for ROS clearance. Mitochondrial respiration was preserved under both submaximal and maximal stimulation. When normalised to mitochondrial content (citrate synthase activity), respiratory capacity increased, suggesting improved intrinsic efficiency. Mitochondrial mass was reduced, supported by decreased mitochondrial volume density assessed morphologically. Transcriptomic alterations in the mitophagy pathway suggest a potential role of altered mitochondrial degradation in this reduction. These findings indicate a transient compensatory response of ageing mitochondria to short-term disuse, suggesting that functional impairments are likely driven by cardiovascular and microvascular factors rather than mitochondrial respiration itself.
    Keywords:  OXPHOS; ROS; inactivity; mitochondria; mitochondrial dynamics; oxidative metabolism
    DOI:  https://doi.org/10.1113/JP291588
  27. Cell. 2026 Sep 10. pii: S0092-8674(26)01001-9. [Epub ahead of print]
      Mitochondria are four-dimensional (4D: x, y, z, and time) organelles essential for cellular function. Characterizing their 4D phenotypic landscape across diverse cellular states requires both 4D imaging and analytical frameworks. We present MitoSpace, a self-supervised deep learning model trained without labels on terabytes of single-cell lattice light-sheet microscopy data of mitochondria under mechanistically distinct perturbations. MitoSpace learns latent representations that outperform predefined features in drug classification and capture interpretable variation in mitochondrial morphology and dynamics. Regression probes predict mitochondrial membrane potential from the learned representations (R2 = 0.91), establishing a quantitative mapping between form and function at the single-cell level. MitoSpace also generalizes zero-shot to unseen perturbations and human lung organoids. Dimensionality ablation reveals that representation quality improves monotonically from 2D to 3D to 4D, demonstrating the importance of volumetric and temporal information. The model, dataset, and interactive explorer are publicly available, providing a foundation for 4D phenotypic screening.
    Keywords:  contrastive learning; drug mechanism of action; foundation model; high-content phenotypic screening; lattice light-sheet microscopy; live-cell 4D imaging; mitochondria; mitochondrial dynamics; mitochondrial membrane potential; self-supervised learning
    DOI:  https://doi.org/10.1016/j.cell.2026.08.028
  28. Ren Fail. 2026 Dec;48(1): 2727298
      Cardiorenal syndrome (CRS) comprises five clinically distinct patterns of acute, chronic, or systemic heart-kidney interaction. Mitochondrial dysfunction is shared by cardiac and renal injury, but the cardiorenal setting is distinguished by the possibility that mitochondrial stress arising in one organ is externalized and transmitted to the other. Extracellular vesicles (EVs) are established mediators of intercellular communication, and EVs carrying mitochondrial DNA, proteins, lipids, RNA, or structurally preserved mitochondrial material-collectively referred to here as mitochondrial extracellular vesicles (mitoEVs)-may connect mitochondrial quality control with systemic signaling. Direct CRS-specific evidence, however, remains limited: patient-derived studies support pathogenic effects of total circulating EVs, whereas most mitoEV-specific mechanisms are inferred from related cardiovascular, renal, inflammatory, cancer, or regenerative models. Accordingly, this review presents an evidence-graded conceptual framework rather than a definitive mechanistic summary. We define and classify mitoEVs, outline methodological requirements for their isolation, same-particle identification, cargo-topology analysis, quantification, and functional validation, and map the available evidence across the five CRS subtypes. We further propose the mitoEV-mitophagy-inflammation axis as a working hypothesis in which impaired mitochondrial quality control may favor vesicular export, inflammatory activation in recipient cells, and secondary mitochondrial dysfunction. Finally, we evaluate the biomarker and therapeutic potential of mitoEVs while emphasizing the need for subtype-specific clinical validation, standardized analytical workflows, source-resolved studies, and rigorous distinction between pathological and reparative vesicle populations.
    Keywords:  Cardiorenal syndrome; inter-organ communication; mitochondrial DNA; mitochondrial dysfunction; mitochondrial extracellular vesicles
    DOI:  https://doi.org/10.1080/0886022X.2026.2727298
  29. Free Radic Biol Med. 2026 Sep 05. pii: S0891-5849(26)01136-6. [Epub ahead of print]256 392-407
      Homocystinuria (HCU) is an inborn error of metabolism and a conformational disorder chiefly caused by missense mutations in the cystathionine beta-synthase (CBS) gene. These mutations often cause CBS destabilization, misfolding and dysfunction resulting in CBS deficiency and pathological accumulation of homocysteine. Morphological changes in mitochondria were described in HCU patients and mouse models; however, their functional significance has remained unknown. Here, we characterized the impact of CBS deficiency due to expression of the most common HCU-causing variant CBS I278T on mitochondrial function using three cellular models of HCU: mouse hepatocytes, human fibroblasts and newly developed CRISPR/Cas9-modified HEK293 cells. We found that the expression of the CBS I278T variant resulted in the unfolded protein response, oxidative stress and impaired cellular energy metabolism in all three cellular models of HCU. Mitochondrial respiration and ATP production were substantially impaired. Bioenergetic deficit correlated morphologically with mitochondrial swelling and loss of cristae and functionally with decreased membrane potential and cytosolic mitochondrial DNA release. Impaired clearance of damaged, non-functional mitochondria was caused by compromised mitophagy activation and dysfunctional lysosomes. Methionine restriction substantially reduced plasma total homocysteine and rescued mitochondrial function of hepatocytes isolated from treated Tg-I278T HCU mice. Importantly, CBS-knockout HEK293 cells showed normal proteostasis and mitochondrial function indicating that CBS I278T misfolding is the main cause and trigger of the described pathological phenotype. These findings provide the first mechanistic insight into the impaired cellular bioenergetics in HCU.
    Keywords:  Cystathionine beta-synthase; ER stress; Homocysteine; Homocystinuria; Lysosomes; Mitochondria; Oxidative stress
    DOI:  https://doi.org/10.1016/j.freeradbiomed.2026.09.002
  30. Front Physiol. 2026 ;17 1907325
      Mitochondria function not only as metabolic and bioenergetic centers but also as critical signaling hubs that integrate cellular context with innate immune response. The mitochondrial antiviral-signaling protein (MAVS), anchored to the outer mitochondrial membrane, is a central adaptor in the RIG-I-like receptor (RLR) pathway, orchestrating type I interferon (IFN) production and apoptosis. Although long regarded as a docking platform for RLR-derived signals, recent advances, particularly concerning its diverse post-translational modifications (PTMs), reveal MAVS as a dynamic integrator that decodes cellular stress and metabolic cues to fine-tune antiviral immunity. Canonical PTMs such as ubiquitination and phosphorylation highlight the importance of precisely controlling both the initiation and downregulation of MAVS signaling, but recent discoveries substantially broaden this regulatory landscape. Stress-responsive phosphorylation mediated via the ASK1-p38 MAPK pathway enhances MAVS signaling capacity under oxidative and ER stress, linking cellular damage to amplified interferon production. In parallel, a newly identified vitamin K-dependent carboxylation of MAVS reshapes downstream signaling by promoting interferon induction while restraining apoptosis, introducing a regulatory layer that may reflect the metabolic context surrounding GGCX activity, including vitamin K availability. Understanding this multilayered regulatory network not only redefines MAVS as a stress-sensitive mitochondrial signaling hub responsive to cellular context but also highlights new avenues for therapeutic modulation of innate immunity and cell fate during viral infection. This review summarizes emerging insights into PTM-mediated regulation of MAVS and outlines their broader implications for mitochondrial antiviral signaling.
    Keywords:  MAVS; apoptosis; cellular stress; innate immunity; mitochondria; post-translational modifications (PTM); type I interferon (IFN-I)
    DOI:  https://doi.org/10.3389/fphys.2026.1907325
  31. Neurotherapeutics. 2026 Sep 08. pii: S1878-7479(26)00234-5. [Epub ahead of print]23(5): e01064
      Temporal interference (TI) stimulation is an emerging noninvasive neuromodulation approach capable of selectively targeting deep brain structures, but its therapeutic effects and underlying mechanisms in Parkinson's disease (PD) remain unclear. Here, we evaluated striatal TI stimulation in an MPTP-induced mouse model of PD. TI stimulation using 2 and 2.02 kHz carrier frequencies, a 20 Hz offset, and a current of 150 μA was delivered for 10 min/day, with 30 s ramp-up and ramp-down, for 7 or 14 consecutive days. We found that TI stimulation significantly reduced motor deficits, with greater behavioral benefit observed after 14 days of stimulation, and attenuated dopaminergic neurodegeneration and α-synuclein accumulation. Meanwhile, TI stimulation improved multiple aspects of mitochondrial homeostasis, including mitochondrial morphology and dynamics, PINK1/Parkin-mediated mitophagy, complex I activity, and mitochondria-dependent apoptotic signaling. Importantly, pharmacological inhibition with Mdivi-1 largely attenuated the behavioral, neuropathological, and mitochondrial effects of TI stimulation, suggesting that mitochondrial quality-control pathways may contribute to TI-associated neuroprotection. Together, these findings indicate that striatal TI stimulation ameliorates motor impairment and exerts neuroprotective effects in parkinsonian mice, with associated improvements in mitochondrial homeostasis, and support TI stimulation as a promising noninvasive therapeutic strategy for PD.
    Keywords:  Mitochondrial homeostasis; Neuroprotection; Parkinson’s disease (PD); Temporal interference stimulation (TI); α-synuclein
    DOI:  https://doi.org/10.1016/j.neurot.2026.e01064
  32. Brief Bioinform. 2026 Sep 01. pii: bbag474. [Epub ahead of print]27(5):
      Mitochondrial proteome reconstruction from eukaryotic sequence data typically relies on prediction of mitochondrial targeting signals (MTSs). However, MTS predictors are primarily trained on model organisms and may perform poorly in phylogenetically divergent lineages or in organisms with atypical or reduced targeting sequences. Accurate reconstruction therefore requires integration of complementary sources of evidence beyond targeting prediction alone. We developed Comprehensive Mitochondrial Reconstructor (CoMR), an integrative workflow that combines targeting prediction, curated homology searches, large-scale similarity searches, and automated phylogenetic analysis within a unified scoring framework. Benchmarking on the model yeast Saccharomyces cerevisiae yielded strong discriminatory performance [receiver operating characteristic (ROC)-area under the curve (AUC) = 0.92], exceeding standalone prediction with TargetP2, a predictor of N-terminal targeting peptides (ROC-AUC = 0.72). In the divergent anaerobic protist Paratrimastix pyriformis, CoMR maintained robust performance (ROC-AUC = 0.86) validated with an experimental proteome despite extreme class imbalance, achieving a precision-recall AUC of 0.183 (~78-fold enrichment over random expectation and ~10-fold improvement over TargetP2). Ablation analyses demonstrate that predictive performance is robust to individual evidence-layer removal, while overlap analyses showed that homology-based searches recovered candidates missed by targeting predictors, particularly in P. pyriformis. Overall, CoMR improves mitochondrial proteome reconstruction over targeting prediction alone and provides a reproducible workflow for predicting mitochondrial and mitochondrion-related organelle protein repertoires across eukaryotes to aid investigations of organelle evolution and proteome reduction.
    Keywords:  integrative evidence scoring; mitochondrial proteome reconstruction; mitochondrial targeting signals prediction; mitochondrion-related organelles; organelle evolution; reproducible bioinformatics workflow
    DOI:  https://doi.org/10.1093/bib/bbag474
  33. Dev Med Child Neurol. 2026 Sep 07.
    CSF1R‐RD Study Group
      Biallelic colony-stimulating factor 1 receptor (CSF1R) variants are a major cause of early-onset CSF1R-related disorder (CSF1R-RD), although fewer than 30 cases have been reported and genotype-phenotype correlations remain unclear. The aim of this study was to characterize the clinical, radiological, and genetic features of patients with brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS). Six patients with biallelic CSF1R variants underwent detailed clinical, neurological, and magnetic resonance imaging evaluation. Three siblings with a homozygous p.Gly585Val variant showed marked phenotypic variability, ranging from severe childhood-onset neurodegeneration to an asymptomatic presentation, all with white matter abnormalities. Three unrelated patients carried different biallelic CSF1R variants and presented with congenital skeletal abnormalities or early-onset neurological disease of variable severity. These cases broaden the phenotypic spectrum of biallelic CSF1R-RD and demonstrate that disease severity cannot be predicted solely by genotype, suggesting an important role for genetic or environmental modifiers.
    DOI:  https://doi.org/10.1111/dmcn.70515
  34. Cell Rep. 2026 Sep 09. pii: S2211-1247(26)01072-7. [Epub ahead of print]45(9): 117994
      The mechanisms governing the final trafficking steps of the cyclic dinucleotide innate immune receptor stimulator of interferon genes (STING) are not fully understood. Here, we identify the mitochondrial protein Fis1 as a regulator of STING endolysosomal degradation. The absence of Fis1 in HeLa cells stabilizes STING, boosting downstream signaling without affecting its initial endoplasmic reticulum (ER)-to-Golgi traffic. Instead, Fis1 loss impairs STING delivery to endolysosomes. Fis1 recruits the Rab7A-GAP TBC1D15 to mitochondria and upon STING activation, TBC1D15 localization shifts to the Golgi. In the absence of Fis1, the interaction between TBC1D15 and Rab7A is disrupted, leading to decreased Rab7A GTPase activity and impaired STING degradation. Our findings reveal a mitochondria-controlled axis where Fis1 tunes Rab7A activity via TBC1D15, which is required to ensure proper STING degradation, directly linking mitochondria to lysosomal trafficking and the termination of innate immune signaling.
    Keywords:  CP: cell biology; CP: immunology; Fis1; Golgi; Rab-GAP; Rab7; STING; TBC1D15; innate immunity; lysosomal degradation; mitochondria; traffic
    DOI:  https://doi.org/10.1016/j.celrep.2026.117994
  35. Exp Neurol. 2026 Sep 11. pii: S0014-4886(26)00389-4. [Epub ahead of print] 116022
      Parkinson's disease (PD) is characterized by selective degeneration of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc) and pathological aggregation of α-synuclein. Traditional two-dimensional (2D) cell cultures and animal models have provided valuable insights but fail to recapitulate the cellular architecture and pathophysiology of the human midbrain. Three-dimensional (3D) midbrain organoids self-organize into neural structures that mimic key aspects of human midbrain development and disease pathology. This review examines midbrain organoid-based PD modeling through a concept-driven lens, addressing five questions: (i) Which aspects of PD can organoids model? (ii) How are technological advances reshaping the field? (iii) How do organoids complement existing model systems? (iv) What are the current limitations, and how can they be addressed? (v) What is the path toward clinical translation? Organoids reliably reproduce mitochondrial and lysosomal dysfunction and, in SNCA triplication models, α-synuclein accumulation, but seldom progressive neurodegeneration or mature Lewy pathology. By distinguishing established findings from emerging technologies and providing a realistic assessment of current limitations, this review offers a framework for prioritizing organoid applications in PD research and translation.
    Keywords:  Cell therapy; Disease modeling; Dopaminergic neurons; Drug discovery; Induced pluripotent stem cells; Midbrain organoids; Parkinson's disease
    DOI:  https://doi.org/10.1016/j.expneurol.2026.116022
  36. Nature. 2026 Sep 08.
      
    Keywords:  Ethics; Gene therapy; Medical research
    DOI:  https://doi.org/10.1038/d41586-026-02497-2
  37. Pharmacol Res. 2026 Sep 11. pii: S1043-6618(26)00356-7. [Epub ahead of print] 108441
      Musculoskeletal disorders (MSDs), including osteoporosis (OP), osteoarthritis (OA), and rheumatoid arthritis (RA), represent a stubborn burden in modern medicine. They share a breakdown in mitochondrial homeostasis. Mitochondrial dysfunction serves as a central pathogenic mechanism unifying these conditions and driving a paradigm shift from symptomatic management to mechanism-based therapeutic strategies. In this review, we examine how mitochondrial defects affect key cell types in bone, cartilage, and muscle, including osteoblasts, osteocytes, osteoclasts, chondrocytes, and skeletal muscle cells, with a focus on osteoporosis (OP), osteoarthritis (OA), and rheumatoid arthritis (RA) as the three primary musculoskeletal conditions that share mitochondrial dysfunction as a unifying mechanism. Impaired energy production, altered dynamics, defective quality control, and redox imbalance each contribute to disease progression. These disturbances drive oxidative damage, metabolic reprogramming, impaired mitophagy, and the release of pro-inflammatory signals known as mtDAMPs. Importantly, such defects are not irreversible, we further synthesize the emerging landscape of mitochondria-targeted strategies. These include antioxidants like MitoQ and SkQ1, metabolic modulators such as metformin and NAD⁺ boosters, mitophagy inducers like urolithin A, fission inhibitors including Mdivi-1, senolytic agents, and even mitochondrial transplantation. We conclude by proposing a precision medicine framework that matches specific mitochondrial abnormalities with mechanism-based interventions. Drawing on recent preclinical and clinical evidence, this review positions mitochondrial crosstalk as a promising foundation for developing disease-modifying therapies in musculoskeletal medicine.
    Keywords:  Mitochondria; musculoskeletal disorders; osteoarthritis; osteoporosis; rheumatoid arthritis
    DOI:  https://doi.org/10.1016/j.phrs.2026.108441
  38. Cell Rep. 2026 Sep 09. pii: S2211-1247(26)01053-3. [Epub ahead of print]45(9): 117975
      Raf kinases are central to mitogenic signaling and cancer, yet the full complement of functionally important Raf-proximal proteins across subcellular compartments remains undefined. Here, proximity-dependent biotinylation (BioID) of Raf1 in Raf1-dependent cancer cells recovered proteins localized to the mitochondrial matrix. Mitochondrial purification and super-resolution microscopy confirmed that a pool of Raf1 resides within mitochondria. There, Raf1 associated with glutaminase (GLS) across diverse human cancers and enabled glutaminolysis, a major source of biosynthetic precursors in tumor cells. These effects required Raf1 kinase activity but were independent of canonical MAP kinase pathway signaling, and matrix-targeted kinase-dead Raf1 impaired both glutaminolysis and in vivo tumorigenesis. Raf1 therefore acts inside mitochondria, where it engages GLS to drive glutamine catabolism and support tumor growth, revealing a non-canonical, metabolic arm of Raf signaling.
    Keywords:  CP: metabolism; MAPK; Raf1; glutaminase; metabolic reprograming
    DOI:  https://doi.org/10.1016/j.celrep.2026.117975
  39. STAR Protoc. 2026 Sep 08. pii: S2666-1667(26)00473-9. [Epub ahead of print]7(3): 104820
      Mitochondria exchange metabolites bidirectionally with the endoplasmic reticulum to maintain bioenergetic homeostasis and respond to cellular stress. Here, we describe a protocol for generating cells that contain a split-GFP contact-site reporter of ER-mitochondria interactions and the sorting of heterogeneous mitochondrial populations based on fluorescence intensity. This approach enables reproducible functional profiling of mitochondrial subpopulations, validated by proteomic analysis demonstrating the enrichment of endoplasmic reticulum-associated proteins in GFP-positive mitochondria. For complete details on the use and execution of this protocol, please refer to Chen et al.1.
    Keywords:  Cell Biology; Cell separation/fractionation; Flow Cytometry; Metabolism
    DOI:  https://doi.org/10.1016/j.xpro.2026.104820
  40. iScience. 2026 Sep 18. 29(9): 117371
      Early-life exposure to dietary excess of lipids increases lifelong vulnerability to metabolic dysfunction, but the determinants of this susceptibility remain unclear. Here, we combine paired-tissue transcriptomics (whole head and fat body), metabolomics, and gut microbiota profiling in Drosophila melanogaster to define how transient developmental exposure to a high-fat diet (HFD) remodels adult metabolism. Larval HFD exposure was associated with extensive transcriptional remodeling in the adult fat body, including coordinated repression of tricarboxylic acid (TCA) cycle and oxidative phosphorylation genes, accompanied by increased ROS accumulation and reduced mitochondrial bioenergetic function. In contrast, the whole-head transcriptome showed a weaker response to HFD than the fat body. Integrated host-microbiome profiling revealed persistent remodeling of the gut microbial community, with altered bacterial diversity and structure. Targeted adult interventions with the NAD+ precursor nicotinamide riboside, the TCA intermediate α-ketoglutarate, or commensal bacteria (Acetobacter and Lactobacillus spp.) restored mitochondrial redox balance, improved respiratory capacity, and extended lifespan. Together, these findings identify mitochondrial dysfunction and microbial remodeling as enduring features of developmental dietary lipid stress and suggest that this metabolic state remains partially reversible through mitochondrial and microbiota-directed interventions.
    Keywords:  drosophila melanogaster; early-life nutrition; gut microbiota; high-fat diet; mitochondrial dysfunction; multi-omics
    DOI:  https://doi.org/10.1016/j.isci.2026.117371
  41. Circ Res. 2026 Sep 11. 139(7): e329481
      
    Keywords:  Editorials; hypertrophy; mitochondria; protein modification, translational; proteostasis; ribosomes
    DOI:  https://doi.org/10.1161/CIRCRESAHA.126.329481
  42. Bioessays. 2026 Sep;48(9): e70181
      Lactate is among the most frequently measured metabolites in physiology and medicine, yet it remains one of the most persistently misunderstood. Long regarded as a metabolic waste product, a marker of anaerobic metabolism, or a direct cause of acidosis and fatigue, lactate remains burdened by misconceptions that obscure its true biological roles. Recent advances in metabolic flux analysis, isotope tracing, hyperpolarized magnetic resonance spectroscopy, and cellular imaging have revised this view and established lactate as a central intermediary in energy metabolism, redox homeostasis, and interorgan metabolic communication. Here, we re-examine common myths surrounding lactate biology and clarify the distinction between correlation and causation in its interpretation. By reframing lactate as a dynamic indicator and, in some contexts, a regulator, of metabolic state rather than a toxic by-product, this review improves experimental reasoning and clinical interpretation across diverse physiological and pathological contexts.
    Keywords:  aerobic glycolysis; clinical biomarkers; correlation versus causation; lactate metabolism; metabolic flux; mitochondrial metabolism; redox homeostasis
    DOI:  https://doi.org/10.1002/bies.70181
  43. Nature. 2026 Sep;657(8131): S14-S15
      
    Keywords:  Cell biology; Therapeutics
    DOI:  https://doi.org/10.1038/d41586-026-02659-2
  44. Ageing Res Rev. 2026 Sep 06. pii: S1568-1637(26)00344-2. [Epub ahead of print]122 103352
       BACKGROUND: Alzheimer's disease (AD) is an age-dependent neurodegenerative syndrome in which microglial senescence bridges biological ageing and Aβ-tau pathology. Senescent microglia undergo permanent cell-cycle arrest, upregulate p16INK4a and SA-β-gal, and secrete a pro-inflammatory senescence-associated secretory phenotype (SASP) that sustains chronic neuroinflammation. Mitochondria-endoplasmic reticulum contact sites (MERCS) are dynamic physical junctions between the endoplasmic reticulum (ER) and mitochondria, whereas mitochondria-associated membranes (MAM) are biochemically enriched ER subdomains located at MERCS. MERCS coordinate calcium shuttling, mitochondrial dynamics, lipid trafficking and the unfolded protein response (UPR); however, whether their dysfunction drives microglial senescence in vivo remains largely untested.
    MAIN TEXT: This review critically integrates five MERCS-linked signalling axes that are hypothesised to drive microglial senescence, namely calcium overload, mitochondrial fission-fusion imbalance, inflammatory amplification, lipid dysregulation and unresolved ER stress. We apply a standardized four-tier evidence-grading framework to stratify causal evidence, systematically distinguish dystrophic, disease-associated (DAM) and bona-fide senescent microglia on the basis of transcriptomic and proteomic data from AD models and human tissues, and address underexplored dimensions including APOE/TREM2 crosstalk, mitophagy, epigenetic regulation, peripheral inflammation and senolytic combinations. We stress that inflammatory activation, oxidative stress and mitochondrial dysfunction represent common cellular stress responses that cannot independently define bona-fide microglial senescence. Because more than 90% of current mechanistic evidence is derived from non-microglial models, MERCS dysfunction in microglia remains a compelling hypothesis that requires rigorous in-vivo validation. Notably, MERCS dysfunction and AD-relevant APOE/TREM2 signalling engage in mutually modulatory crosstalk rather than a simple linear upstream-downstream hierarchy.
    CONCLUSION: Translational development faces several barriers, including poor blood-brain barrier (BBB) penetration, off-target neurotoxicity, uncharacterised long-term safety and limited generalisability from APP/PS1 models lacking tauopathy. All MERCS-targeted and senolytic combinatorial strategies discussed herein represent prospective pre-clinical research directions rather than mature clinical therapeutic approaches. We propose an experimental roadmap based on conditional knockouts, intravital imaging and bidirectional interventions. Overall, MERCS dysfunction is proposed as a candidate multimodal upstream hub for calcium, mitochondrial, inflammatory, lipid and ER-stress signalling, and rigorous in-vivo validation together with microglia-selective delivery platforms is essential for therapeutic translation.
    Keywords:  Alzheimer's disease; Lipid metabolism; Microglial senescence; Mitochondria–endoplasmic reticulum contact sites; Neuroinflammation; Senolytics
    DOI:  https://doi.org/10.1016/j.arr.2026.103352
  45. Front Aging Neurosci. 2026 ;18 1884207
      Parkinson's disease (PD) is characterized by progressive nigrostriatal degeneration, yet the contribution of modification-rich small RNAs to PD pathology remains unclear. Here, we used PANDORA-seq to profile the striatal small RNA landscape in a subacute MPTP-induced mouse model of PD. MPTP-treated mice exhibited significant motor deficits together with reduced striatal tyrosine hydroxylase and dopamine transporter expression, confirming successful model establishment. Small RNA profiling revealed that transfer RNA-derived small RNAs and ribosomal RNA-derived small RNAs, rather than microRNAs, dominated the striatal small RNA transcriptome. Among the dysregulated small RNA classes, mitochondrial tsRNAs showed the most prominent and coordinated downregulation. Bioinformatic analysis suggested that predicted targets of differentially expressed mt-tsRNAs were enriched in synaptic organization, presynaptic function, membrane contact sites, and lipid-related pathways. In SH-SY5Y cells, transfection of an mt-tsRNA mimic partially reversed MPP+ induced increases in reactive oxygen species and restored mitochondrial membrane potential. These findings provide a modification-aware small RNA landscape of the PD striatum and identify mt-tsRNA downregulation as a notable feature of MPTP-induced parkinsonism.
    Keywords:  MPTP; Parkinson’s disease; mitochondrial dysfunction; mitochondrial tsRNAs; pANDORA-seq; striatum
    DOI:  https://doi.org/10.3389/fnagi.2026.1884207
  46. Biol Direct. 2026 Aug 05. pii: 175. [Epub ahead of print]21(1):
      Mutations in PARK7, which encodes DJ-1, cause autosomal recessive early-onset Parkinson's disease. DJ-1 contributes to mitochondrial homeostasis and ER-mitochondria communication, but how the pathogenic L166P and M26I variants affect BNIP3/BNIP3L-associated phenotypes remains incompletely understood. Here, we examined DJ-1 variant-dependent changes in BNIP3/BNIP3L interactions, mitochondrial morphology, ER-mitochondria proximity-associated readouts, and global intracellular Ca2+ responses in PC-12 and SH-SY5Y cell models. AlphaFold3-based interface prediction, co-immunoprecipitation, and GST pull-down assays supported interactions involving DJ-1, BNIP3, and BNIP3L, including binding to selected BNIP3- and BNIP3L-derived peptide regions. DJ-1 WT and M26I showed detectable binding to BNIP3-derived regions, whereas the unstable L166P variant showed reduced BNIP3 binding even after partial restoration of L166P abundance with MG132. Reciprocal co-immunoprecipitation and knockdown experiments further supported an association between BNIP3 and BNIP3L in these cells. In L166P expressing cells with GRP75 knockdown, BNIP3 depletion increased the ER-mitochondria distance and reduced the length of the ER-mitochondria proximity region. Colocalization analyses showed DJ-1 variant-dependent changes in proximity-associated imaging readouts, while immunoblotting identified reduced VDAC1 and MFN1 levels after BNIP3 depletion in mutant expressing cells. BNIP3 depletion reduced the relative 2-APB evoked Fluo-4 response in WT, L166P and M26I expressing cells by 40.7%, 76.7%, and 42.5%, respectively. Overall, these findings may reflect altered DJ-1/BNIP3/BNIP3L interaction profiles and BNIP3 sensitive changes in ER-mitochondria proximity associated and global intracellular Ca2+ readouts, particularly in L166P-expressing cells, although direct validation is still required.
    Keywords:  BNIP3; BNIP3L; DJ-1; Endoplasmic reticulum; Mitochondria; Mutant; PARK7; Parkinson's disease
    DOI:  https://doi.org/10.1186/s13062-026-00928-8
  47. iScience. 2026 Sep 18. 29(9): 117325
      Despite the central role of skeletal muscle bioenergetics in whole-body metabolic health, assessing mitochondrial oxidative phosphorylation and tricarboxylic acid (TCA) cycle activity in vivo remains a major challenge. While hyperpolarized [1-13C]pyruvate has been used to probe pyruvate dehydrogenase (PDH) flux to approximate TCA cycle activity, this approach relies on the unreliable assumption that PDH and TCA cycle fluxes are tightly coupled. Here, we demonstrate that hyperpolarized [2-13C,3-2H3]pyruvate can track label-incorporation into TCA cycle-derived glutamate in rat skeletal muscle. Following intravenous dichloroacetate administration, we observed a greater increase in hyperpolarized [1-13C]acetyl-L-carnitine relative to [5-13C]glutamate, suggesting disproportionately increased PDH flux relative to TCA cycle flux. A similar trend was also observed in ex vivo GC-MS analysis of skeletal muscle tissue collected from rats injected with [U-13C3]pyruvate. Together, these findings highlight the complex interplay between PDH and TCA cycle fluxes and establish hyperpolarized [2-13C,3-2H3]pyruvate as a robust agent for assessing mitochondrial metabolism in skeletal muscle.
    Keywords:  TCA cycle; acetyl-L-carnitine; dichloroacetate; hyperpolarized; oxidative phosphorylation; pyruvate; pyruvate dehydrogenase; skeletal muscle
    DOI:  https://doi.org/10.1016/j.isci.2026.117325
  48. Retin Cases Brief Rep. 2026 Sep 08.
       PURPOSE: To describe a case of acute, severe bilateral foveolysis following systemic ifosfamide therapy and the subsequent anatomical and functional recovery after discontinuation of the drug and administration of metabolic therapy targeting mitochondrial dysfunction.
    METHODS: The patient had a comprehensive ophthalmological examination including high resolution optical coherence tomography. After cessation of ifosfamide, she was treated with nicotinamide adenine dinucleotide 850 mg, alpha lipoic acid 600 mg, and coenzyme Q10 100 mg daily.
    RESULTS: A 34-year-old woman receiving ifosfamide for an inoperable skull-base chordoma developed rapid bilateral 20/60 visual acuity. Optical coherence tomography revealed complete dissolution of the central fovea in each eye with accumulation of necrotic debris centrally. Given the known pathway of ifosfamide neurotoxicity, mitochondrial complex I inhibition with depletion of nicotinamide adenine dinucleotide (NAD), the patient received high-dose oral NAD, coenzyme Q10, and alpha-lipoic acid. Over the next several weeks, both eyes showed symmetrical reconstitution of the fovea with centripetal migration of the outer nuclear layer and eventual restoration of outer retinal architecture. By 12 weeks, foveal structure was normal and visual acuity improved to 20/25 and 20/20.
    CONCLUSIONS: Systemic ifosfamide was associated with an acute symmetrical dissolution of the central fovea, termed foveolysis. Although spontaneous improvement after drug withdrawal cannot be excluded, the rapid and near-complete recovery after metabolic therapy supports a mechanistic link between ifosfamide-induced mitochondrial dysfunction, NAD depletion, and reversible foveal injury. The foveal architecture was restored through the defined sequence of foveation, demonstrating the capacity of the adult fovea for organized structural reconstitution.
    Keywords:  Foveolysis; foveation; ifosfamide
    DOI:  https://doi.org/10.1097/ICB.0000000000001979
  49. Nature. 2026 Sep;657(8131): 562-564
      
    Keywords:  Biological techniques; Cell biology; Proteomics; Technology
    DOI:  https://doi.org/10.1038/d41586-026-02805-w
  50. J Pharmacol Exp Ther. 2026 Aug 14. pii: S0022-3565(26)01209-7. [Epub ahead of print]393(9): 105009
      Mitochondrial dysfunction is central to postcardiac arrest brain injury (PCABI); however, the underlying protein networks involved remain poorly defined. SRT1720, a silent information regulator 1 activator, exhibits potential mitochondrial protective effects, although its role and mechanisms in PCABI are unclear. Adult male Wistar rats were randomized into sham, cardiopulmonary resuscitation (CPR), and SRT1720 groups and subjected to 8-minute asphyxia-induced cardiac arrest followed by CPR, with intraperitoneal SRT1720 (5 mg/kg) given 10 minutes after resuscitation. In a functional cohort (n = 15), SRT1720 significantly restored the mitochondrial calcium retention capacity, which was markedly impaired by cardiac arrest/CPR. Complex I activity was selectively suppressed and was restored by SRT1720, whereas other respiratory complex activities remained unchanged. In a parallel proteomic cohort (n = 9), 127 differentially expressed mitochondrial proteins were identified, with metabolic pathways being the most significantly enriched. Integrated network analysis revealed a coordinated pathological signature comprising complex I deficiency (NDUFB4), oxidative stress (NDUFB11), endoplasmic reticulum stress (RPN2), and lipid dysregulation (PLA2). SRT1720 treatment was associated with the reversal of these proteomic alterations and the re-establishment of metabolic homeostasis. Collectively, this multilevel analysis identifies a mitochondrial proteomic network disrupted in PCABI. The functional and proteomic recovery observed with SRT1720 is consistent with enhanced silent information regulator 1 signaling, suggesting a potential therapeutic strategy that warrants further mechanistic validation. SIGNIFICANCE STATEMENT: This study reveals a coordinated mitochondrial protein network-characterized by complex I dysfunction, oxidative stress, endoplasmic reticulum stress, and lipid dysregulation-as a key driver of postcardiac arrest brain injury. Treatment with the silent information regulator 1 activator SRT1720 was associated with the reversal of these proteomic alterations, selective restoration of complex I activity, and recovery of mitochondrial calcium regulation, thereby re-establishing energy metabolism and metabolic homeostasis. These integrated, multilevel findings provide a mechanistic framework for targeting mitochondrial dysfunction in postcardiac arrest brain injury and support SRT1720 as a promising therapeutic candidate.
    Keywords:  Cardiac arrest; Cardiopulmonary resuscitation; Mitochondria; Mitochondrial proteomics; Postcardiac arrest brain injury
    DOI:  https://doi.org/10.1016/j.jpet.2026.105009
  51. J Mol Cell Cardiol. 2026 Sep 09. pii: S0022-2828(26)00146-X. [Epub ahead of print]
       BACKGROUND: Atrial fibrillation (AF) is the most common tachyarrhythmia, with diabetes mellitus (DM) as a key risk factor. DM is linked to cardiac lipid toxicity. We previously found that the mitochondrial outer membrane protein Mitofusin 2 (MFN2) is reduced in AF and further suppressed in DM. However, whether MFN2 contributes to altered lipid metabolism remains unclear.
    METHODS: Atrial tissue from diabetic (db/db) and wild-type mice and atrial appendages from patients with AF or sinus rhythm were analyzed. AF- and DM-like conditions were modeled in human, rat, and mouse atrial myocytes using tachypacing (TP) and high glucose (HG). MFN2 expression was modulated by siRNA knockdown or plasmid-based overexpression. Lipid droplets (LDs), intracellular fatty acid distribution, LD-mitochondria colocalization, carnitine-dependent fatty acid metabolic activity, and mitochondrial respiration were assessed.
    RESULTS: DM model db/db mice and AF patients exhibited reduced MFN2 expression and increased LD accumulation. Similarly, TP and HG treatments reduced MFN2 levels, increased LD content, and decreased LD-mitochondria colocalization in atrial myocytes across species. MFN2 knockdown increased LD accumulation, whereas MFN2 overexpression attenuated lipid accumulation under basal and stress conditions. Functionally, MFN2 reduction was associated with decreased FAO capacity and redistribution of fatty acids toward lipid droplets and away from mitochondria. These effects were not observed with MFN1 manipulation, suggesting isoform-specific regulation.
    CONCLUSIONS: MFN2 regulates atrial lipid metabolism and is associated with lipid accumulation and altered lipid droplet-mitochondria organization in AF and DM. These findings identify a potential link between mitochondrial dynamics and lipid metabolic remodeling in atrial disease.
    Keywords:  Atrial fibrillation; Diabetes mellitus; Fatty acid oxidation; Lipid droplets; Mitochondria; Mitofusin 2 (MFN2)
    DOI:  https://doi.org/10.1016/j.yjmcc.2026.09.003
  52. Brain. 2026 Aug 12. pii: awag204. [Epub ahead of print]
      Mono-allelic mutations in seven cytosolic aminoacyl-tRNA synthetase genes cause Charcot-Marie-Tooth (CMT) peripheral neuropathy. Here, we report that tyrosyl-tRNA (tRNATyr) sequestration by CMT-mutant tyrosyl-tRNA synthetase (TyrRS) is the molecular root cause of CMT-YARS1. tRNATyr sequestration depletes the cellular free tRNATyr pool, leading to insufficient tyrosyl-tRNATyr production and ribosome stalling at tyrosine codons. In three Drosophila CMT-YARS1 models, transgenic overexpression of tRNATyr rescued peripheral neuropathy phenotypes and defective mRNA translation. We provide biochemical evidence for tRNATyr sequestration by the three CMT-TyrRS variants expressed in the Drosophila models and ribosome profiling revealed selective ribosome pausing at the two tyrosine codons. In the Yars1E196K mouse model, adeno-associated virus serotype 9 (AAV9)-mediated overexpression of tRNATyr-but not wild-type TyrRS protein-fully rescued motor performance deficits, reduced nerve conduction velocity and reduced motor axon calibre. Furthermore, AAV9-tRNATyr gene therapy prevented activation of the integrated stress response in spinal motor neurons, indicating resolution of ribosome stalling. Thus, elevating tRNATyr levels constitutes a novel therapeutic approach for CMT-YARS1.
    Keywords:  Charcot–Marie–Tooth disease; aminoacyl-tRNA synthetase; gene therapy; integrated stress response; molecular mechanism; peripheral neuropathy
    DOI:  https://doi.org/10.1093/brain/awag204
  53. Tremor Other Hyperkinet Mov (N Y). 2026 ;16 52
      We report a 41-year-old man of African descent from the Northern Minas Gerais/Jequitinhonha Valley region of Brazil - historically characterized by geographic isolation, predominantly Afro-Indigenous ancestry, and structural consanguinity - born to first-degree cousin parents, who presented with progressive axonal sensorimotor neuropathy, cerebellar ataxia, dysarthria, and oculomotor abnormalities. His sister had died with a similar untreated neurological syndrome. Three serial electroneuromyographic studies demonstrated stable chronic axonal polyneuropathy with complete bilateral absence of sural, fibular, and plantar sensory potentials, and active distal denervation. Brain MRI, unchanged over a two-year interval, showed T2/FLAIR hyperintense foci in both cerebellar hemispheres and the right middle cerebellar peduncle with cerebellar atrophy, without diffusion restriction or contrast enhancement. Next-generation sequencing (NGS; Mendelics®; 101-gene hereditary neuropathy panel) identified a homozygous pathogenic variant in the POLG gene (c.2243G>C; p.Trp748Ser - ClinVar ID 13507), confirming the diagnosis of mitochondrial DNA depletion syndrome type 4B (OMIM #613662). The patient's paternal great-grandfather was from the state of Ceará, a region with documented European colonization, providing a plausible route for the introduction of this classically European founder allele into his Afro-Brazilian lineage, with homozygosity emerging through consanguinity. To our knowledge, this is the first report of p.Trp748Ser in a patient of African descent, directly challenging its presumed ethnic exclusivity. Clinical and electrophysiological stability over 2.5 years is consistent with the favorable course reported in p.W748S homozygotes. This case underscores the importance of POLG-related ataxia as a diagnostic consideration in patients of non-European ancestry presenting with axonal neuropathy and cerebellar signs, and highlights the consequences of underrepresentation of populations of African descent in genetic disease research.
    Keywords:  Brazil; POLG; axonal neuropathy; cerebellar ataxia; consanguinity; health disparities; mitochondrial disease
    DOI:  https://doi.org/10.5334/tohm.1238
  54. SLAS Discov. 2026 Sep 09. pii: S2472-5552(26)00040-7. [Epub ahead of print] 100334
      Mitochondrial network organization in skeletal muscle reflects metabolic health and is disrupted in primary mitochondrial myopathies, type 2 diabetes/insulin resistance, and age-related functional decline. Studying these disruptions in vitro using mature human myotubes is, however, complicated by the dense, anisotropic architecture of mitochondria, which poses fundamental challenges for automated segmentation and phenotypic classification. Here we present MitoLatentProfiler, a deep learning framework that combines images of micropatterned primary human myotubes with a topology-preserving U-Net and a Classifier U-Net that jointly optimizes segmentation and phenotype classification, structuring the encoder latent space for downstream analysis. Constraining analysis to troponin-positive myotubes excludes confounding signals from neighboring cells. The resulting embeddings organize along two main axes: a morphological axis (fusion/fission balance, shared by TOMM20 and MitoTracker) and a marker-specific axis (associated with bioenergetic insult, MitoTracker only), enabling hierarchical marker-adaptive classification. The segmentation model achieves Dice =0.82 and clDice =0.86. A hierarchical support vector machine classifier reaches macro F1 up to 0.93, outperforming classical morphological descriptors across donors (n=2), markers, and plates not seen during training. Fragmentation, Hypertubulation, and two Damaged phenotype-scores (induced by oligomycin/antimycin and carbonyl cyanide m-chlorophenyl hydrazone) yield Z' factors of 0.54, 0.38, 0.87, and 0.96 respectively, confirming screening applicability for damage and fragmentation readouts. The modular design allows the encoder to serve as a fixed feature extractor: adapting to new phenotypes requires only retraining the lightweight classifier. This pipeline provides a scalable tool for mechanistic studies and compound screening targeting mitochondrial dysfunction in muscle disease.
    Keywords:  Deep learning segmentation; High-content screening; Image-based phenotyping; Latent space representation; Mitochondrial morphology; Skeletal muscle myotubes
    DOI:  https://doi.org/10.1016/j.slasd.2026.100334
  55. EBioMedicine. 2026 Sep 11. pii: S2352-3964(26)00358-0. [Epub ahead of print]132 106474
       BACKGROUND: Rare bi-allelic mutations in kinesin family member 12 (KIF12) cause high gamma-glutamyl transferase (GGT) cholestatic liver disease, yet the cellular mechanisms driving this phenotype remain unknown.
    METHODS: To investigate the role of KIF12 in biliary pathology, we introduced the homozygous p.Arg219∗ KIF12 mutation, previously identified in affected patients, into induced pluripotent stem cells (iPSCs). These cells were differentiated into 2D human cholangiocyte-like cells (iCCs) and 3D biliary organoids.
    FINDINGS: Analysis of healthy human liver single cell RNA-sequencing datasets demonstrated that KIF12 is primarily detected in biliary epithelial cells. Pioneering single-molecule fluorescence microscopy in live iCCs, we observed wildtype KIF12 co-localising with microtubules, supporting its predicted function as a microtubule-associated motor protein. The p.Arg219∗ variant was associated with reduced KIF12 transcript abundance and markedly reduced detectable tagged mutant protein in an overexpression system. Mutant iCCs exhibited abnormal perinuclear clustering of mitochondria and lysosomes, mislocalisation of primary cilia, and increased GGT activity, all of which were rescued by re-expression of wildtype KIF12.
    INTERPRETATION: This study identifies KIF12 as a key regulator of organelle localisation in human cholangiocytes, expanding our understanding of kinesin roles beyond their established functions in neuronal systems. Our findings provide new insights into the pathogenesis of KIF12-related cholestatic liver disease and establish a foundation for developing targeted genetic therapies.
    FUNDING: This study was supported by Doris Duke Charitable Foundation, the National Institutes of Health and internal funds from the Center for Transcriptional Medicine at the University of Pittsburgh.
    Keywords:  Cholestatic liver disease; Kinesin family member; Monogenic disease; iPSC-based model
    DOI:  https://doi.org/10.1016/j.ebiom.2026.106474
  56. MedComm (2020). 2026 Sep;7(9): e70984
      Mitochondrial dysfunction is one of the earliest pathological features of Alzheimer's disease (AD), preceding overt neurodegeneration and cognitive decline. Amyloid-β (Aβ) accumulation has long been considered a central pathogenic event in AD, yet how Aβ toxicity is mechanistically linked to mitochondrial impairment during early disease stages remains incompletely understood. To address this, we combined multi-omics with in vivo and in vitro genetic interventions. Here, we show that malic enzyme 3 (Me3) links Aβ aggregation to mitochondrial dysfunction in APP/PS1 mice and neuronal cells. At ultra-early and early AD stages (3 and 6 months), Me3 was upregulated and accumulated within mitochondria, where it colocalized with Aβ42 and physically interacted with it, an association linked to oxidative stress and impaired mitophagy. Knockdown of Me3 reduced mitochondrial reactive oxygen species, improved mitochondrial morphology, and alleviated mitophagy defects in both cellular and mouse models, with statistical significance across these functional measurements (p < 0.05). These results suggest that Me3 functions not only as a metabolic responder to Aβ-associated stress but also as a contributor to early mitochondrial pathology. By identifying the Aβ-Me3 axis, this study provides mechanistic insight into early mitochondrial dysfunction in AD, while further validation in human AD samples remains necessary.
    Keywords:  Alzheimer's disease; malic enzyme 3; mitophagy; proteomics; β‐amyloid
    DOI:  https://doi.org/10.1002/mco2.70984
  57. Clin Genet. 2026 Sep 07.
      Protein-truncating variants in the 3' region of a transcript, evading mRNA degradation and giving rise to aberrant truncated proteins, are an underrecognized cause in Mendelian diseases. Here, we report two individuals with heterozygous de novo nonsense variants in the penultimate and last exon of NUSAP1, both presenting with early-onset refractory epilepsy, global developmental delay, congenital microcephaly, and a recognizable facial gestalt. RNA sequencing performed in one individual did not show a reduction in expression, compatible with escape of aberrant transcripts from nonsense mediated mRNA decay (NMD). We systematically analyzed gnomAD population data to delineate a critical region at the 3' region of NUSAP1, where nonsense variants introduce a premature termination codon and escape NMD. Such variants are absent from healthy controls, while frameshift variants producing C-terminal elongations appear tolerated. This position-dependent model provides guidance for diagnostic variant interpretation.
    Keywords:  NUSAP1; microcephaly; nonsense‐mediated decay; protein‐truncating variants
    DOI:  https://doi.org/10.1111/cge.70244
  58. Nat Cell Biol. 2026 Sep 11.
      Missense mutations in tubulin-coding genes often exert dominant-negative effects on microtubule (MT) assembly, leading to developmental disorders collectively known as tubulinopathies. Here we performed suppressor screens in Caenorhabditis elegans and identified three functionally distinct classes of missense suppressors that counteract toxic α- and β-tubulin mutants. Intergenic suppressors-missense variants in the reciprocal tubulin gene-restore MT architecture via two distinct mechanisms: assembly-defective variants competitively exclude mutant tubulins, whereas assembly-competent variants modulate MT dynamics. These mechanisms are conserved and recapitulated in human cells and murine oocytes, where selected intergenic suppressors rescue pathogenic tubulin-induced MT defects and outperform wild-type tubulin supplementation. A systematic mutational analysis of TUBA1A further defines a landscape of gain-of-function assembly-competent suppressors, supported by molecular simulations showing restoration of protofilament geometry. Together, our results provide a structural and functional framework for tubulin suppression and highlight intergenic suppressors as potential candidates for precision therapeutics targeting dominant tubulinopathies.
    DOI:  https://doi.org/10.1038/s41556-026-02066-9