bims-polgdi Biomed News
on POLG disease
Issue of 2026–10–04
thirty papers selected by
Luca Bolliger, lxBio



  1. Dis Model Mech. 2026 Sep 01. pii: dmm052804. [Epub ahead of print]19(9):
      Mitochondria are critical cellular organelles engaged in energy production, diverse intermediary metabolic functions and signaling. Inherited genetic disorders directly affecting mitochondrial structure and/or function, known collectively as primary mitochondrial diseases, are among the most complex and heterogeneous inherited conditions, involving dual-genome origin, multisystem manifestations and widely variable clinical severity. These diseases can follow different inheritance patterns and are caused by pathogenic variants in nearly 400 genes encoded by either the mitochondrial or nuclear genome, which commonly impair proteins or RNAs in distinct molecular pathways, resulting in defective energy production by disrupting oxidative phosphorylation. Mitochondrial diseases are challenging to accurately diagnose because of their extensive clinical variability and common features with other metabolic and neuromuscular disorders, as well as limitations in existing diagnostic tools. However, advances in molecular genetics, imaging and systems biology have transformed the diagnostic landscape, enabling more comprehensive and integrative approaches. This Review provides an overview of mitochondrial physiology and outlines the current state of diagnostic strategies, ranging from conventional biochemical assessments and tissue-based analyses to next-generation genome-wide sequencing and the emerging omics technologies. We discuss how combining classical and modern methods can improve diagnostic accuracy and inform clinical decision making. Additionally, we highlight the need for continued refinement of diagnostic frameworks to better support personalized management and future therapeutic development in mitochondrial medicine.
    Keywords:  Mitochondrial diagnostics; Mitochondrial disease biomarkers; Multi-omics; Primary mitochondrial disease; mtDNA sequencing
    DOI:  https://doi.org/10.1242/dmm.052804
  2. Philos Trans R Soc Lond B Biol Sci. 2026 Oct 01. pii: 20250271. [Epub ahead of print]381(1960):
      Mitochondria are the powerhouse of the cell, playing vital roles in energy production and metabolism. Most mitochondrial proteins are encoded in the nuclear DNA and must be synthesized in the cytosol before being transported into the appropriate mitochondrial compartments. Mitochondrial protein import is not only essential for mitochondrial biogenesis but also a crucial regulatory step in mitochondrial proteostasis surveillance and stress response. Additionally, defects in mitochondrial protein import lead to mislocalization of precursor proteins to the cytosol, disrupting cytosolic proteostasis and contributing to various human diseases. This review summarizes recent findings demonstrating that mitochondrial protein import is a key regulator of cellular proteostasis. This article is part of the Theo Murphy meeting issue 'ProteostaSys: a systems view of proteostasis'.
    Keywords:  mitochondria; protein import; proteostasis; stress response
    DOI:  https://doi.org/10.1098/rstb.2025.0271
  3. Front Cell Dev Biol. 2026 ;14 1943282
      Mitochondrial dynamics has long been interpreted primarily through fission and fusion, yet tubular mitochondria can also undergo rapid pearling, a phenomenon in which elongated mitochondria reorganize into a beads-on-a-string morphology while retaining a continuous imaged contour. The occurrence and biological relevance of mitochondrial pearling require careful study. The dimensionless tension-bending ratio used to organize these observations is a heuristic analogy to single-membrane tubes, not a validated quantitative model of the mitochondrial double membrane. Evidence does not yet establish a continuous sequence from pearling through coordinated outer- and inner-membrane scission to mitophagy or intercellular mitochondrial transfer; those links are therefore presented as hypotheses and testable predictions. We use the provisional term "candidate disease-associated sustained pearling phenotype" only for within-study events that meet dynamic pearling criteria and show longer duration or delayed/failed reversal relative to appropriately matched controls. No universal duration threshold or validated pearling-defined disease entity currently exists. Event duration, wavelength, un-pearling kinetics, separate outer- and inner-membrane continuity, and the fate of individual pearls should be measured together to determine whether sustained events are incidental, adaptive, or causally involved in disease.
    Keywords:  Ca2+; mitochondrial pearling; mitochondrial transfer; mitophagy; mtDNA nucleoid; neurological disease; sustained pearling phenotype
    DOI:  https://doi.org/10.3389/fcell.2026.1943282
  4. Cell. 2026 Oct 01. pii: S0092-8674(26)01076-7. [Epub ahead of print]189(20): 6243-6245
      Our textbook view of mitochondria, which has been shaped by studies in animals and yeast, fails to do justice to the organelle's broader eukaryotic diversity. While most mitochondria retain a tiny genome, the overwhelming majority of their proteins are nuclear-encoded and vary extensively across lineages. To map this diversity, the MitoCarta Tree of Life Consortium developed experimental and computational workflows to generate high-accuracy mitochondrial proteomes across diverse eukaryotes-helping to lay a foundation for comparative mitochondrial biology with broad implications for physiology, evolution, and disease.
    DOI:  https://doi.org/10.1016/j.cell.2026.09.007
  5. Life Sci Alliance. 2026 Dec;pii: e202503535. [Epub ahead of print]9(12):
      Lon protease 1 (LONP1) is a conserved hexameric protease implicated in mitochondrial disorders and cancer progression. In this study, we present PZL-26, a potent and selective small-molecule inhibitor that targets LONP1 without affecting the proteasome, leading to selective accumulation of mitochondrial proteins. Using PZL-26 in a whole-genome CRISPR-Cas9 screen, we identified genes essential for cell survival under protease inhibition, supporting a role for LONP1 in key mitochondrial processes, including complex I biogenesis, mitochondrial transcription, and translation. Our CRISPR screen results are consistent with proteomics analysis, with both approaches converging on the same mitochondrial pathways and highlighting functional interactions between LONP1 and other mitochondrial proteases, including potential compensatory mechanisms. These findings establish PZL-26 as an effective tool for exploring LONP1 function and pave the way for future therapeutic strategies targeting LONP1 in mitochondrial diseases and cancer.
    DOI:  https://doi.org/10.26508/lsa.202503535
  6. Sci Data. 2026 Sep 30. pii: 1363. [Epub ahead of print]13(1):
      Rare diseases affect an estimated 446 million people worldwide, yet reliable epidemiological data are scarce due to insufficient data sources and lack of standardization. The German National Registry for Rare Diseases (NARSE) aims to establish a comprehensive epidemiological data basis and enable data availability for research. However, limited interoperability between clinical and epidemiological data sources restricts secondary use and cross-registry research. This study assesses the semantic interoperability between NARSE and two core data sets: the German Medical Informatics Initiative (MII) core data set and the European Rare Disease Registry Infrastructure (ERDRI) core data set. Using a formal consensus process, mapping categories (exactMatch, closeMatch, broadMatch, narrowMatch, relatedMatch) were defined, analyzed, and evaluated for information loss using a heuristic scale. Most NARSE elements aligned with the MII core data set, while mapping to the ERDRI core data set revealed more challenges due to undefined value sets and inconsistent coding systems. These findings highlight the importance of consistent application of coding standards to safeguard information value and improve interoperability in rare disease research.
    DOI:  https://doi.org/10.1038/s41597-026-08406-6
  7. Front Biosci (Elite Ed). 2026 Sep 04. 18(3): 49053
       BACKGROUND: Mitochondria play a key role in the regulation of inflammatory processes. It is well established that mitochondria contain their own mitochondrial DNA (mtDNA), which displays a substantially higher frequency of polymorphisms compared to the nuclear genome. To maintain mitochondrial functionality, cells employ a quality control mechanism known as mitophagy, which ensures the selective removal of dysfunctional mitochondria. The aim of this study was to investigate the relationship between mitochondrial polymorphisms, the efficiency of dysfunctional mitochondria clearance, and proinflammatory activation of inflammatory cells.
    METHODS: In this study, we used cybrids derived from the THP-1 (human monocytic leukemia cell line) that differed in their mitochondrial genome.
    RESULTS: Based on the levels of secreted proinflammatory cytokines (tumor necrosis factor (TNF), interleukin-1β (IL-1β), IL-6, IL-8, and C-C motif chemokine ligand 2 (CCL2)), cybrids were divided into two groups: one exhibiting a low and the other a high proinflammatory response. mtDNA sequencing revealed a higher number of polymorphisms in the high proinflammatory response group. Transcriptome analysis showed that signaling pathways associated with mitophagy were downregulated in cells with a high proinflammatory response. Functional assays confirmed that mitophagy was impaired in this group.
    CONCLUSIONS: Increased proinflammatory activity in cybrids correlated with a greater number of mtDNA polymorphisms and with impaired mitophagy. These observations point to an association between mitochondrial genomic variation, reduced mitochondrial quality control, and heightened proinflammatory activation of inflammatory cells. However, the data are associative and do not establish causality. Further mechanistic studies are required to determine whether and how mtDNA polymorphisms and defective mitophagy directly contribute to proinflammatory activation.
    Keywords:  cybrids; inflammation; mitochondria; mitophagy; mtDNA polymorphisms
    DOI:  https://doi.org/10.31083/FBE49053
  8. Mitochondrion. 2026 Oct 01. pii: S1567-7249(26)00111-X. [Epub ahead of print] 102221
      Mitochondria and their biomacromolecular complexes-such as the electron transport chain (ETC), mitochondrial permeability transition pore (mPTP), and protein quality control systems-play pivotal roles in aging and age-related diseases. This review integrates recent insights into how structural and functional disruptions of these complexes drive cellular senescence and systemic decline. We outline the architecture of mitochondrial assemblies (e.g., oxidative phosphorylation (OXPHOS) complexes, mtDNA-protein interactions) essential for energy production and organelle stability. Age-related alterations in stoichiometry, conformational states (e.g., mPTP opening), and post-translational modifications (e.g., SIRT3-mediated acetylation) compromise mitochondrial integrity, fueling metabolic dysfunction and chronic inflammation ("inflammaging"). Therapeutic strategies include small-molecule stabilizers of ETC supercomplexes, peptide-based mPTP inhibitors, and CRISPR-mediated correction of mtDNA-protein mismatches. Tissue-specific models (e.g., Complex I in skin aging, Bcl-2 protein imbalance in ovarian aging) exemplify the clinical relevance. We also categorize nine age-associated diseases-neurodegenerative, cardiovascular, and cancer types-based on their dependence on distinct mitochondrial complexes, such as ATP synthase in cancer resistance and the TIM/TOM import machinery in Alzheimer's disease. By linking structural findings (e.g., cryo-EM studies) with therapeutic innovation, this review offers a framework for targeting mitochondrial complexes to mitigate aging and its related pathologies.
    Keywords:  Aging; Aging-related diseases; Mitochondria; Therapy; mtDNA
    DOI:  https://doi.org/10.1016/j.mito.2026.102221
  9. Seizure. 2026 Sep 24. pii: S1059-1311(26)00284-0. [Epub ahead of print]143 31-38
       OBJECTIVE: To characterize the epileptic spectrum associated with COQ4 variants through three newly identified patients and literature review.
    METHODS: We retrospectively collected clinical data from three patients with COQ4 variants diagnosed at Chang Gung Memorial Hospital, Linkou Branch, between November 2021 and December 2023. A literature review identified 66 previously reported patients with COQ4 variants. Clinical presentation, genotype, seizure characteristics, epilepsy syndromes, electroencephalographic findings, and treatment information were extracted when available.
    RESULTS: Among the 69 cases with COQ4 variants in this study and previously reported cases, 48 (70%) had seizure presentations, including generalized-onset seizures, focal-onset seizures, epileptic spasms, and seizures of unknown onset. Here, we report three patients with COQ4 variants presenting with early infantile developmental and epileptic encephalopathy (EIDEE), the first reported case of epilepsy of infancy with migrating focal seizures (EIMFS) in a patient with COQ4 variants, and infantile epileptic spasms syndrome (IESS) with a favorable documented response to corticosteroid therapy, further expanding the epileptic phenotypic spectrum of COQ4 variants.
    SIGNIFICANCE: Our findings broaden the epileptic spectrum associated with COQ4 variants and highlight the importance of early genetic testing in infants with developmental and epileptic encephalopathies, EIMFS, or IESS. The favorable corticosteroid response observed in our patient with IESS and COQ4 variants may have therapeutic implications and warrants further investigation.
    Keywords:  COQ4 variants; Coenzyme Q10 deficiency; Developmental and epileptic encephalopathy (DEE); Mitochondrial disorders
    DOI:  https://doi.org/10.1016/j.seizure.2026.09.020
  10. Assay Drug Dev Technol. 2026 Sep 30. 1540658X261490394
       Mitochondrial protein import is essential for overall cellular homeostasis, yet scalable approaches to systematically interrogate mitochondrial protein import and identify modulators of this process remain limited. Here, we describe a yeast-based, gain-of-growth (GoG), high-throughput screening assay for the identification of small-molecule modulators of mitochondrial protein import. In this system, truncated human proteins that contain N-terminal mitochondrial targeting sequences (MTSs) are expressed in S. cerevisiae, where mitochondrial protein import is coupled to an auxotrophic growth readout. Disruption of import leads to cytosolic accessibility of the URA3 reporter, producing a GoG phenotype under selective conditions. As a proof of concept, we applied this model to PTEN-induced kinase 1 (PINK1), a mitochondrial imported regulator of mitochondrial quality control. Using this approach, we demonstrate the ability to monitor PINK1 import and identify candidate compounds that modulate this process. Collectively, this work establishes a scalable and reproducible platform for interrogating mitochondrial protein import and identifying compounds for downstream validation in mammalian systems.
    Keywords:  N-terminal targeting sequence; PINK1; high-throughput screening; mitochondrial protein import
    DOI:  https://doi.org/10.1177/1540658X261490394
  11. Mol Genet Genomic Med. 2026 Oct;14(10): e70319
       BACKGROUND: Epigenomic testing complements sequence-based analysis by detecting downstream changes in epigenomic state associated with genetic variation. Genome-wide DNA methylation episignatures are reproducible molecular phenotypes that can serve as biomarkers of specific Mendelian disorders, particularly those involving chromatin regulators, DNA methylation machinery, and transcriptional regulatory pathways.
    METHODS: We reviewed the biological basis, laboratory methodology, analytical approaches and clinical applications of DNA methylation episignature testing, with emphasis on neurodevelopmental disorders and rare diseases. We also considered current computational tools, limitations of clinical interpretation and emerging epigenomic and epitranscriptomic approaches.
    RESULTS: DNA methylation episignature testing is now used clinically to support molecular diagnosis, assist interpretation of variants of uncertain significance and distinguish overlapping neurodevelopmental and chromatin-related disorders. Interpretation integrates methylation-array data, statistical and machine-learning classification, phenotype, genotype and assay-specific validation. Important limitations include tissue specificity, mosaicism, developmental effects, incomplete disorder coverage and dependence on reference datasets. Emerging approaches include tissue-agnostic classifiers, long-read methylation profiling, additional epigenomic signatures and multi-omic integration.
    CONCLUSION: DNA methylation episignatures provide a clinically useful functional layer of evidence by detecting downstream epigenomic consequences of genomic variation. They should be interpreted as an adjunct to sequence-based diagnosis and clinical assessment rather than as a replacement for either. Continued expansion of reference datasets and integration with other functional genomic approaches should broaden their diagnostic utility.
    Keywords:  DNA methylation; chromatinopathy; clinical epigenomics; episignature; long‐read sequencing; m6A; multi‐omics; neurodevelopmental disorder; rare disease; variant of uncertain significance
    DOI:  https://doi.org/10.1002/mgg3.70319
  12. J Neurol. 2026 Sep 29. pii: 631. [Epub ahead of print]273(10):
       BACKGROUND: Parkinson's disease (PD) and multiple system atrophy (MSA) are α-synucleinopathies characterized by progressive neurodegeneration and overlapping clinical features but distinct pathological mechanisms with peripheral biomarkers remaining limited. Mitochondrial dysfunction and telomere attrition are hallmarks of cellular aging implicated in neurodegeneration, yet their combined role remains unclear.
    METHODS: Whole-blood mitochondrial DNA copy number (mtDNA-CN) and telomere length (TL) were assessed in 58 PD patients, 35 MSA patients, and 62 healthy controls from Southern Italy. Mitochondrially encoded NADH dehydrogenase 1 (ND1) gene levels and TL were measured by quantitative PCR and normalized to the β-actin gene. Group differences were tested using multivariable linear regression adjusted for age and sex, with statistical significance defined as p < 0.05 after false discovery rate (FDR)-corrected Wald tests.
    RESULTS: ND1-CN was significantly reduced in PD (pFDR = 1.63×10-22 ) and MSA (pFDR = 2.56×10-8 ) compared to controls and was also significantly lower in PD with respect to MSA (pFDR = 8.43×10-22 ). TL was reduced in PD (pFDR = 3.21×10-16 ) and MSA (pFDR = 1.44×10-12 ), with smaller between-group differences (pFDR = 5.47×10-2 ).
    CONCLUSIONS: Our findings support the involvement of mitochondrial dysfunction and telomere attrition in PD and MSA. However, mtDNA-CN provided a clearer distinction between the two α-synucleinopathies than TL, suggesting that peripheral mtDNA-CN may represent a more informative non-invasive biomarker of disease-specific mitochondrial alterations. Further longitudinal studies in larger, independent cohorts are warranted to validate its diagnostic and prognostic utility.
    Keywords:  Mitochondrial DNA copy number; Multiple system atrophy; Parkinson’s disease; Telomere length
    DOI:  https://doi.org/10.1007/s00415-026-14172-7
  13. J Biol Chem. 2026 Sep 29. pii: S0021-9258(26)02483-X. [Epub ahead of print] 113611
      Mitochondrial DNA (mtDNA) transcription is essential for cellular energy production and is carried out by a streamlined transcription system in which transcription factor A (TFAM), transcription factor B2 (TFB2M), and the mitochondrial RNA polymerase (PolRMT) assemble at defined promoters to initiate transcription. Previous structural studies elucidated the core initiation mechanism but relied on truncated promoter templates that excluded upstream regulatory DNA interactions. Here, we present two conformations of mitochondrial transcription initiation complexes assembled on the heavy-strand promoter (HSP): a TFAM-bound complex with extended upstream DNA and a TFAM-free complex containing short linear DNA. The TFAM-bound structure reveals a transcription-stimulatory interface between PolRMT and the upstream DNA, termed upstream backbone interface (UBI), enabled by TFAM-induced promoter bending. Consistent with this structural observation, UBI truncation reduces transcription from all mtDNA promoters, an effect abolished by mutation of the PolRMT interface. In contrast, the TFAM-free structure reveals a transcription-inhibitory interaction of linear upstream DNA with the PolRMT tether helix, which would sterically clash with TFAM binding. Deletion of the tether helix increases off-target transcription, supporting an autoinhibitory role that enhances promoter specificity. Together, these findings reveal how interactions of TFAM and PolRMT with upstream DNA influence activity and specificity of mitochondrial transcription initiation.
    Keywords:  Mitochondria; PolRMT; TFAM; mitochondrial DNA (mtDNA); transcription; transcription initiation
    DOI:  https://doi.org/10.1016/j.jbc.2026.113611
  14. J Physiol Biochem. 2026 Oct 02. pii: 99. [Epub ahead of print]82(1):
      Cardiometabolic diseases (CMD) encompass a group of disorders sharing a common pathophysiology that increases the risk of cardiovascular disease and mortality. Key events underlying CMD pathophysiology include insulin resistance, low-grade inflammation, altered hormonal and myokine profiles, and mitochondrial dysfunction. The latter manifests as reduced mitochondrial mass and oxidative function, increased oxidative stress, altered Ca2+ handling and decreased mitochondrial membrane potential. Skeletal muscle plays a pivotal role in CMD pathophysiology through two main mechanisms: i) the storage and oxidation of energy substrates and ii) the release of myokines, which in turn modulate metabolism and mitochondrial function. Here, we propose that the unfavorable myokine profile associated with CMD pathophysiology leads to mitochondrial alterations, and that restoring a healthy myokine profile helps improve mitochondrial structure, function, and overall metabolic health. To test this idea, in this narrative review, we critically present evidence of an altered myokine profile in CMD and highlight the most important mitochondrial alterations in CMD before examining the direct effect of specific myokines on mitochondria and CMD-associated mitochondrial dysfunction. Finally, we summarize the effects of therapeutic interventions on both the myokine profile and mitochondrial function, also appraising human trials that use myokine-based interventions to improve CMD. We focus on molecular mechanisms and causal relationships, while also indicating novel perspectives in the field. Understanding the role of mitochondria in the effect of myokines on metabolic health may open new preventive and therapeutic strategies for addressing CMD more efficiently.
    Keywords:  Healthy lifestyle; Mitochondria; Myokines; Obesity; Skeletal muscle
    DOI:  https://doi.org/10.1007/s13105-026-01233-8
  15. Front Pharmacol. 2026 ;17 1934929
       Introduction: Rare diseases represent a major public health challenge characterised by high unmet medical need, limited patient populations, and increasing methodological complexity in clinical research. Since the implementation of Regulation (EU) No. 536/2014 and the launch of the Clinical Trials Information System (CTIS) on 31 January 2022, the European clinical trial landscape has undergone profound regulatory transformation. This study analysed the evolution of rare disease clinical trials in Italy from 2022 to 2026 within the framework of the implementation of the Clinical Trials Regulation (CTR).
    Methods: Clinical trial applications submitted to the Italian Medicines Agency (AIFA) between 1 January 2022 and 31 May 2026 were analysed, using data from the Osservatorio sulla Sperimentazione Clinica dei medicinali (OsSC) and the CTIS. Trials were categorised by year, therapeutic area, and Investigational Medicinal Product (IMP) characteristics. They were further analysed by phase, sponsor profile, study population, and Italy's role as Reporting Member State (RMS).
    Results: Of 3,299 total submissions, 969 (29.37%) involved rare diseases. While the absolute number of rare disease trials fluctuated between 201 and 258, their proportional share declined due to faster growth in non-rare disease research. Phase III studies predominated, followed by Phase II trials, consistent with a late-stage development focus. Commercial sponsors accounted for the vast majority of rare disease trials. Conversely, non-commercial research represented a minor share and underwent a progressive structural contraction. Research activity was concentrated in oncology, nervous system diseases, immune disorders, and congenital diseases. Chemical compounds remained the predominant IMP, whereas Advanced Therapy Medicinal Products accounted for a limited fraction. In trials where Italy acted as RMS, the landscape was dominated by multinational commercial Phase III studies, whereas non-commercial activity remained largely mononational and Phase II-oriented.
    Keywords:  AIFA; ATMP; CTIS; RMS; clinical trials; non-commercial research; rare diseases; regulation (EU) 536/2014
    DOI:  https://doi.org/10.3389/fphar.2026.1934929
  16. Front Genet. 2026 ;17 1921857
      Drug repurposing represents a pragmatic strategy for patients with cancer who have limited standard-of-care options. Traditional in silico or functional repurposing approaches often rely on well-characterised protein targets or validated experimental models, which are sparsely available in rare cancer settings and impractical within clinically relevant timeframes. Tumour-agnostic biomarker-driven strategies, by contrast, offer more timely workflows for integration into routine oncology practice, but have largely been dominated by 'on-target' approaches that may be less applicable to rare cancers frequently lacking canonical targetable mutations. However, emerging pharmacological evidence demonstrates that many anticancer agents engage a broader target landscape, creating opportunities for 'off-target' repurposing against non-canonical tumour dependencies. Although less established, we contend 'off-target' repurposing remains a potentially important strategy offering therapeutic hope to patients with rare cancers for whom no standard options, targetable biomarkers, or disease-specific trials exist. This perspective explores emerging evidence surrounding 'off-target' repurposing as a strategy, as well as evaluating recent criticisms of off-target low-evidence genomic matching in precision oncology literature. By doing so, we advocate for development of rigorously designed prospective clinical trials to examine 'off target' strategies, centred in safety of participants, evidence generation, and accessibility. Such frameworks require embedding off-target candidates within trial designs suited to small heterogeneous cohorts, with built-in mechanisms for evidence generation and access to therapies. We propose safe implementation should incorporate longitudinal monitoring, and parallel orthogonal validation to strengthen biological and pharmacological plausibility, refine drug and dose selection, and inform adaptive treatment modification over time.
    Keywords:  biomarker; drug development; next-generation sequencing; off-target; precision oncology; rare cancers; repurposing
    DOI:  https://doi.org/10.3389/fgene.2026.1921857
  17. bioRxiv. 2026 Sep 27. pii: 2026.09.24.754271. [Epub ahead of print]
      Mutations in the mitochondrial genome (mtDNA) play a critical role in the aging process and a wide variety of age-related diseases. However, it remains unclear when the mutations that drive physiological decline arise. To answer this question, we generated a new mouse model in which mitochondrial mutagenesis can be confined to a defined window of time. Surprisingly, we found that mutations that arise during the first two months of life are sufficient to drive a wide variety of age-related pathologies, and that the severity of this pathology is broadly regulated by distinct, tissue-specific selective pressures that control the fate of mtDNA mutations with age. Further, we found that selection against deleterious variants can be modulated by manipulation of mitochondrial fusion in vitro and in vivo. These observations raise the possibility that in some tissues, the pace of aging is pre-determined by events that occur early in life and that interventions targeting mitochondrial fusion may be able to slow down or reverse the expansion of these pathogenic variants. These results carry far-reaching implications for strategies aimed at preventing or delaying age-related decline.
    DOI:  https://doi.org/10.64898/2026.09.24.754271
  18. Front Mol Neurosci. 2026 ;19 1892506
      Mitochondria are central regulators of cellular metabolism, redox homeostasis, and stress adaptation. Mitohormesis refers to an adaptive response in which mild or transient mitochondrial perturbation activates stress-response pathways that subsequently enhance mitochondrial or cellular resilience; however, persistent or excessive stress can overwhelm adaptive capacity and promote mitochondrial dysfunction and tissue injury. Metabolic diseases, including obesity and type 2 diabetes mellitus, are major risk factors for cognitive decline and dementia, and clinical studies have demonstrated associations between metabolic dysfunction, structural brain abnormalities, accelerated brain aging, and impaired cognitive function. However, direct evidence linking mitochondrial dysfunction to neurodegeneration in humans remains limited, with most mechanistic insights derived from experimental animal models and cultured neuronal systems. Experimental evidence indicates that chronic metabolic stress can disrupt mitochondrial quality control and proteostasis, increase mitochondrial reactive oxygen species production, and promote neuroinflammation and neuronal dysfunction. Conversely, adaptive mitochondrial stress responses can preserve mitochondrial integrity and cellular resilience through coordinated regulation of the integrated stress response, mitochondrial quality-control mechanisms, lysosomal-mitochondrial crosstalk, extracellular vesicle-mediated communication, and inter-organ signaling. In Alzheimer's disease, mitochondrial dysfunction and amyloid-β/tau pathology may interact bidirectionally, potentially generating self-reinforcing cycles of neuronal injury. Lifestyle and pharmacological interventions-including exercise; caloric restriction; nutritional ketosis; and the use of metformin, sodium-glucose cotransporter 2 inhibitors, and glucagon-like peptide-1 receptor agonists-have been associated with adaptive mitochondrial and metabolic responses involving AMP-activated protein kinase, nuclear factor erythroid 2-related factor 2, mitochondrial biogenesis, mitophagy, and redox signaling. However, evidence that mitohormesis directly mediates their beneficial effects varies substantially across interventions and remains predominantly indirect or hypothesized in humans. Moreover, the discrepancy between encouraging preclinical findings and clinical outcomes highlights important translational barriers, including the lack of validated biomarkers, uncertainty regarding optimal stress intensity and timing, and tissue- and disease-specific differences in adaptive capacity. Collectively, current evidence supports mitohormesis as a conceptual framework for integrating mitochondrial stress adaptation, metabolic dysfunction, and neuronal resilience rather than as an established unifying mechanism underlying neurodegeneration. Defining the conditions under which mitochondrial stress is adaptive, identifying reliable biomarkers of mitohormesis, and determining whether these responses can be safely and effectively modulated in humans will be essential for establishing its therapeutic relevance in metabolic and neurodegenerative diseases.
    Keywords:  dementia; metabolic disease; mitochondrial dysfunction; mitochondrial quality control; mitohormesis; neurodegeneration; oxidative stress; redox signaling
    DOI:  https://doi.org/10.3389/fnmol.2026.1892506
  19. Front Cell Dev Biol. 2026 ;14 1961856
      The eye is one of the most metabolically active organs, and mitochondria serve as the central hub for cellular energy metabolism by providing adenosine triphosphate through oxidative phosphorylation. Disruption of mitochondrial metabolism-including insufficient adenosine triphosphate synthesis, excessive production of reactive oxygen species, and dysregulated quality control-can trigger various ocular diseases. Common blinding diseases such as myopia, diabetic retinopathy, and glaucoma are closely associated with mitochondrial dysfunction in specific cell types. This review delineates the mechanisms by which metabolic adaptations in scleral fibroblasts induce myopia and the synergistic action of lipofuscin, the high-glucose-triggered mitochondrial reactive oxygen species bursts and metabolic memory in diabetic retinopathy, and the roles of mitochondrial dynamics imbalance and energy exhaustion in trabecular meshwork cells in glaucoma. Based on these mechanisms, the article proposes intervention strategies targeting mitochondrial antioxidant defense, enhancing mitochondrial biogenesis, regulating mitochondrial dynamics, and restoring mitophagy, aiming for precise prevention and treatment of ocular diseases at the mitochondrial level.
    Keywords:  cell-type-specific; functional disorders; intervention strategies; mitochondria; ophthalmic diseases
    DOI:  https://doi.org/10.3389/fcell.2026.1961856
  20. Nat Aging. 2026 Sep 29.
      Aging paradoxically leads to both a decline in skeletal muscle mitochondrial function and a shift in muscle composition that favors fibers rich in mitochondria. Yet the biological rationale and mechanism underlying this phenomenon remain largely unknown. Here we show that synthesis of the mitochondrial membrane lipid, cardiolipin, causally links mitochondrial dysfunction to fiber-type adaptations in aging mouse and human skeletal muscle. By mimicking the aging decline of skeletal muscle cardiolipin levels in young mice using inducible tissue-specific cardiolipin synthase 1 (Crls1) deletion, we could reproduce key aging hallmarks, including the shift from glycolytic to oxidative fibers. This shift is mediated by mitochondria-to-nucleus signaling through the nuclear receptor, estrogen-related receptor γ, which promotes reactive oxygen species-sensitive glucose uptake and enhanced glycolytic rerouting to sustain antioxidant defenses. Restoring Crls1 expression in adult Crls1 knockout mice reestablishes cardiolipin levels, initiates reversal of muscle atrophy and fully rescues premature mortality. These findings reveal how changes in a mitochondrial membrane lipid cell autonomously orchestrate fiber-type adaptations in aging and myopathies.
    DOI:  https://doi.org/10.1038/s43587-026-01227-7
  21. Aging (Albany NY). 2026 Sep 23. 18(1): 1316-1330
      Modulation of magnetic field strength may be a potential therapeutic strategy, particularly in the context of ageing and neurodegenerative disease. Research on magnetic fields (MFs) has been motivated by diverse factors, including interplanetary space travel, emissions from medical equipment, and the mechanisms underlying magnetoreception in migratory birds. The biochemistry of hypomagnetic field (HMFs; <5 μT) exposure has focused on healthy model organisms, leaving their therapeutic potential unexplored. We investigated the effects of HMF exposure in a neurodegenerative disease model. The Pink1 loss-of-function model recapitulates key features of early-onset Parkinson's disease, including mitochondrial dysfunction, locomotor impairment, dopaminergic neuron degeneration, and reduced lifespan. A MuMagnetic GA4 benchtop shielding apparatus (Magnetic Shields Limited, UK), was used to generate a uniform internal field of 5 nT, to effectively remove Earth's geomagnetic field (GMF; 25-60 μT). Wild-type W118 (WT) and Pink1B9/Y (Pink1⁻) D. melanogaster were exposed to HMF and assessed for survival, locomotor performance, mitochondrial respirometry and reactive oxygen species production. HMF exposure increased lifespan in Pink1⁻ D. melanogaster by 20%, with a paradoxical reduction in climbing ability. WT D. melanogaster had decreased lifespan and improved locomotor performance under HMF. Nitrogen-vacancy (NV) centre quantum diamond sensors, were used to detect elevated superoxide levels following HMF exposure. High-resolution respirometry showed increased mitochondrial complex II activity under HMF conditions. We demonstrate that hypomagnetic fields modulate mitochondrial physiology and reactive oxygen species production in D. melanogaster. This highlights the potential of HMF exposure as a novel, non-invasive approach for modulating mitochondrial dysfunction in neurodegenerative disease.
    Keywords:  Parkinson’s disease; diamond quantum sensing; drosophila melanogaster; hypomagnetic field; mitochondria
    DOI:  https://doi.org/10.18632/aging.206424
  22. Cell Rep Med. 2026 Oct 02. pii: S2666-3791(26)00521-5. [Epub ahead of print] 103104
      Twenty years after the discovery of induced pluripotent stem cells, the field has progressed from patient-specific disease modeling toward cell-based therapies for neurodegenerative disorders. Parkinson's disease has emerged as the leading model for neuronal replacement, whereas Huntington's disease, Alzheimer's disease, and amyotrophic lateral sclerosis require distinct combinations of circuit reconstruction, cellular support, immune modulation, and engineered therapeutic delivery. We discuss key determinants of clinical translation, including cell source, product identity, graft composition, graft-host interactions, manufacturing reproducibility, genomic integrity, and clinical evaluation. We propose that the interval between cell transplantation and long-term engraftment constitutes a biological "black box" in which graft fate and therapeutic outcome are determined. As regenerative medicine enters its third decade, future progress will depend not only on generating therapeutic cells but also on elucidating and engineering the biological processes that determine their fate after transplantation, marking a conceptual transition from stem cell biology toward transplantation biology.
    Keywords:  cell replacement therapy; genomic integrity; graft-host interactions; induced pluripotent stem cells; neurodegenerative diseases; regenerative medicine; transplantation biology
    DOI:  https://doi.org/10.1016/j.xcrm.2026.103104
  23. Farm Hosp. 2026 Sep 29. pii: S1130-6343(26)00209-6. [Epub ahead of print]
       OBJECTIVE: To perform a comparative review of orphan drug policies and designation criteria implemented by the US Food and Drug Administration, the European Medicines Agency, and Japan's Pharmaceuticals and Medical Devices Agency, assessing their influence on development, approval, and access.
    METHOD: A targeted review of legislation, guidance documents, and peer-reviewed analyses from each regulatory body was conducted.
    RESULTS: The Food and Drug Administration accelerates development via robust tax credits and seven-year market exclusivity, though high pricing remains challenging. The European Medicines Agency emphasizes unmet medical needs and ten-year exclusivity, ensuring more homogeneous pricing despite slower approvals. Japan's Pharmaceuticals and Medical Devices Agency utilizes specific subsidies and the "Sakigake" designation to counter "drug loss" and encourage innovation. Despite expedited pathways globally, significant disparities in affordability and patient access persist.
    CONCLUSIONS: While national incentives successfully boost orphan drug approvals, global access inequities remain unresolved. Harmonizing regulatory criteria and promoting international collaboration on evidence requirements are essential for equitable and sustainable access to rare disease therapies worldwide.
    Keywords:  Administración de Alimentos y Medicamentos de Estados Unidos; Agencia Europea de Medicamentos; Agencia Japonesa de Productos Farmacéuticos y Dispositivos Médicos; Aprobación de medicamentos; Drug approval; Enfermedades raras; European Medicines Agency; Japanese Pharmaceuticals and Medical Devices Agency; Orphan drug regulation; Rare diseases; Regulación de medicamentos huérfanos; United States Food and Drug Administration
    DOI:  https://doi.org/10.1016/j.farma.2026.08.009
  24. Ageing Res Rev. 2026 Sep 26. pii: S1568-1637(26)00377-6. [Epub ahead of print]123 103385
      The aging brain undergoes progressive alterations in energy metabolism that may reduce its capacity to match energy supply with changing functional demands. Declining glucose metabolism, mitochondrial dysfunction, and altered neuron-glia and neurovascular interactions may contribute to this vulnerability, but these changes do not necessarily indicate complete loss of metabolic capacity. Neuroenergetic flexibility refers to the capacity to coordinate changes in substrate utilization with energetic demand while maintaining cellular and functional homeostasis. This review synthesizes evidence from cellular, animal, imaging, and clinical studies to examine the mechanisms underlying this capacity, how it changes with aging, and whether diet-induced metabolic switching can enhance it. Particular attention is given to the distinction between metabolic switching, defined as a change in the relative contribution of available substrates, and neuroenergetic flexibility, which requires coordinated adaptation across substrate delivery, cellular metabolism, mitochondrial processing, neurovascular support, and functional demand. Evidence indicates that ketogenic diets, intermittent fasting, and caloric restriction can alter substrate availability and utilization and can engage mitochondrial, cellular stress-response, and nutrient-sensing pathways. However, the strength of evidence differs across biological levels: changes in alternative-substrate utilization are more consistently demonstrated than coordinated improvements in mitochondrial, vascular, cellular, and functional outcomes. Thus, increased ketone utilization or other metabolic shifts should not, by themselves, be interpreted as evidence of restored neuroenergetic flexibility. Instead, the available evidence suggests that aging may preserve individual metabolic capacities while reducing the coordination and reserve required to adapt effectively to changing energetic demands. Dietary interventions therefore provide useful models for testing metabolic adaptability, but their ability to restore integrated neuroenergetic flexibility in aging or neurodegenerative disease remains uncertain and appears to depend on age, metabolic state, disease context, intervention characteristics, and adherence.
    Keywords:  Brain aging; Glucose hypometabolism; Intermittent fasting; Ketone metabolism; Metabolic switching; Mitochondrial function; Neuroenergetic flexibility
    DOI:  https://doi.org/10.1016/j.arr.2026.103385
  25. Pediatr Obes. 2026 Oct;21(10): e70153
       BACKGROUND: Childhood obesity increases chronic disease risk. Mitochondrial dysfunction, reflected by altered mitochondrial DNA (mtDNA) content and oxidative damage, has been implicated in obesity-related metabolic disorders, but paediatric data remain scarce.
    OBJECTIVE: To evaluate mtDNA content and oxidation in children with obesity, stratified as metabolically healthy (MHO) or unhealthy (MUO), compared with peers with normal weight (NW).
    METHODS: Cross-sectional study of 114 children aged 7-14 years: NW (n = 37), MHO (n = 40) and MUO (n = 37). mtDNA content was measured by qPCR, and oxidative damage as 8-oxoguanine by FPG-qPCR. Analyses included Student's t-test, one-way ANOVA with Tukey HSD, Pearson's χ2 and linear regression adjusted for age, sex and Tanner stage.
    RESULTS: Children with obesity showed elevated cardiometabolic risk, lower HDL-c, insulin resistance (IR), inflammation and significantly lower mtDNA content (-30.9%; p = 0.004) compared with NW, with no differences between MHO and MUO. Higher BMI was independently associated with lower mtDNA content (-3.72% per 1 kg/m2; p = 0.003), consistent across pubertal stages. In a multivariable model of metabolic syndrome components, HDL-c was independently associated with mtDNA content (β = 0.33; p = 0.016). Lower mtDNA content was also associated with IR and higher hs-CRP (B = -0.13; p = 0.028). mtDNA oxidation showed only a non-significant trend in obesity.
    CONCLUSIONS: Lower mtDNA content was detectable in MHO and independently associated with HDL-c and subclinical inflammation. The absence of MHO-MUO differences suggests that chronic inflammation and IR, common to both phenotypes, may be the main factors associated with mtDNA variation at this age.
    Keywords:  childhood obesity; metabolic syndrome; mitochondrial metabolism; mtDNA content and oxidation
    DOI:  https://doi.org/10.1111/ijpo.70153
  26. Mol Biol Cell. 2026 Sep 30. mbcE25110541
      Abnormal α-synuclein (α-syn) accumulation and mitochondrial dysfunction are central features of Parkinson's disease (PD), and increasing evidence suggests that these processes are closely connected. Using yeast models to manipulate mitochondrial metabolic states, we investigated how mitochondrial activity may affect α-syn accumulation and toxicity. Under the fermentative growth condition, we found that α-syn localized predominantly to the plasma membrane and was non-toxic. Respiratory growth induced cytoplasmic α-syn accumulation, mitochondrial abnormalities, and marked toxicity dependent on α-syn expression and membrane binding. Surprisingly, genetic disruption of mitochondrial respiration also enhanced α-syn toxicity despite causing little α-syn accumulation, indicating that both increased demand of mitochondrial respiratory function and compromised respiratory capacity can sensitize cells to α-syn toxicity. Overexpression of HAP4, a master regulator of mitochondrial biogenesis and respiratory gene expression, suppressed α-syn toxicity, but this protection required functional mitochondria. Together, these findings demonstrate that distinct mitochondrial functional states exert markedly different effects on α-syn toxicity and reveal a complex relationship between mitochondrial function and cellular response to α-syn expression. These models provide a new system for investigating how changes in mitochondrial function contribute to α-syn-induced cellular stress.
    DOI:  https://doi.org/10.1091/mbc.E25-11-0541
  27. Pediatr Radiol. 2026 Sep 29.
      Neurogenetic diseases are individually rare but collectively common. Recent advances in genetic diagnostics, expansion of newborn screening, and therapeutic progress make timely recognition of these disorders more crucial than ever. This review will encompass the most common white matter-dominant, gray matter-dominant, and magnetic resonance spectroscopy (MRS) characteristic genetic conditions causing metabolic disorders with (1) specific MRI/MRS features and (2) therapy available to cure, halt progression, slow progression, or reduce symptoms.
    Keywords:  Genetic diagnostics; Leukodystrophy; MR spectroscopy; Neurogenetic diseases; Therapeutic progress
    DOI:  https://doi.org/10.1007/s00247-026-06796-8
  28. Turk Arch Pediatr. 2026 Sep 28. 61(10): 870-885
      Neurometabolic epilepsies are a heterogeneous group of inherited metabolic disorders in which seizures are a major clinical feature and may be the presenting symptom. Although each disorder is rare, they are clinically significant because many are potentially treatable and early intervention can substantially improve neurological outcomes. The clinical spectrum includes neonatal epileptic encephalopathies, infantile spasms, developmental and epileptic encephalopathies, progressive myoclonic epilepsies, and late-onset epileptic syndromes. Epileptogenesis arises from diverse mechanisms, such as impaired cerebral energy metabolism, neurotransmitter dysfunction, accumulation of neurotoxic metabolites, cofactor deficiencies, and organelle dysfunction. Recognizing a metabolic etiology requires a high index of suspicion. Key diagnostic clues include early seizure onset, developmental delay or regression, episodic neurological deterioration, movement disorders, multisystem involvement, characteristic neuroimaging findings, and a suggestive family history. A structured diagnostic approach that integrates first-tier biochemical investigations, targeted metabolic testing, cerebrospinal fluid studies, neurophysiological assessment, neuroimaging, and molecular genetic testing is essential for timely diagnosis. In critically ill patients, empirical administration of pyridoxine, pyridoxal-5'-phosphate, folinic acid, biotin, and selected cofactors should be considered while diagnostic investigations are ongoing. Ketogenic dietary therapy is a disease-specific treatment for selected disorders of cerebral energy metabolism, particularly glucose transporter type 1 deficiency syndrome and pyruvate dehydrogenase complex deficiency.
    Keywords:  Epilepsy; glucose transporter type 1; inborn errors; metabolism; pyridoxine dependent epilepsy; seizures
    DOI:  https://doi.org/10.65717/TurkArchPediatr.2026.26401
  29. Neural Regen Res. 2026 Sep 30.
       ABSTRACT: Parkinson's disease is characterized by α-synuclein aggregation, dopaminergic neuron loss, and neuroinflammation. Emerging evidence reveals complex crosstalk between exosomes and cellular senescence in Parkinson's disease pathogenesis. Exosomes mediate α-synuclein transmission and neuroinflammation, while delivering protective factors such as miRNAs that inhibit cellular senescence. Senescent cells secrete pro-inflammatory factors via mitochondrial dysfunction and the senescence-associated secretory phenotype, linking to Parkinson's disease mitophagy defects. This forms a vicious "senescence-protein deposition-inflammation" cycle, with senescent cell-derived exosomes exacerbating α-synuclein aggregation and inflammation. Therapeutically, exosomes are ideal drug carriers due to blood-brain barrier penetrability and low immunogenicity for targeted antioxidant delivery. Future perspectives highlight exosome-based biomarkers and brain-gut axis intervention as promising directions. We propose integrating exosome engineering and senolytic strategies to lay the foundation for early diagnosis and precision therapy of Parkinson's disease, promoting diagnosis-intervention translational research and bridging bench-tobedside translation.
    Keywords:  Parkinson’s disease; blood-brain barrier; cellular senescence; exosomes; mitochondrial dysfunction; senescence-associated secretory phenotype; α-synuclein
    DOI:  https://doi.org/10.4103/NRR.NRRONLINE-D-26-00800
  30. Int Rev Immunol. 2026 Sep 28. 1-22
      Regulatory T cells (Tregs) are essential for maintaining immune homeostasis, yet classical suppressive mechanisms alone do not fully explain how tolerance is propagated across tissues and sustained over time. Extracellular vesicles (EVs), particularly exosome-enriched small EVs, have emerged as an important additional layer of Treg-associated communication by enabling the selective transfer of proteins, lipids and regulatory RNAs between cells. In this review, we examine the reciprocal EV-Treg axis, highlighting how Treg-derived EVs extend suppressive function beyond direct cell contact by modulating dendritic cells, restraining effector T-cell responses, promoting regulatory macrophage polarization and supporting tissue repair. We further discuss how EVs released by immune, epithelial, stromal, microbial and tumor-associated cells shape Treg differentiation, stability and functional specialization in diverse physiological and pathological settings. Across autoimmunity, transplantation, barrier inflammation, infection and cancer, this bidirectional crosstalk emerges as a context-dependent regulator of immune tolerance that may either preserve tissue homeostasis or promote pathological immune suppression. We finally consider the therapeutic potential of targeting or engineering EV-Treg interactions as a cell-free strategy for precision immunomodulation.
    Keywords:  EV cargo; exosomes; extracellular vesicles (EV); immune modulation; immunosuppression; regulatory T cells
    DOI:  https://doi.org/10.1080/08830185.2026.2736246