bims-musmir Biomed News
on microRNAs in muscle
Issue of 2025–12–14
eleven papers selected by
Katarzyna Agnieszka Goljanek-Whysall, University of Galway



  1. Am J Physiol Cell Physiol. 2025 Dec 12.
      Cancer cachexia is a wasting condition, primarily affecting skeletal muscle, impairing patients' quality of life, prognosis, and survival. The molecular triggers are incompletely defined but given prior evidence for epigenetic plasticity in muscle, we speculate dysregulated DNA methylation plays a role in muscle transcriptional alterations mediating cachexia severity. We aimed to describe and integrate the cachexia methylome and transcriptome. We used a time course approach in a mild cachexia model (Colon-26, C26) coupled with a severe cachexia genetic model (ApcMin/+) in both biological sexes to assess the methylome across degrees of cachexia pathology. The muscle methylome and transcriptome were analyzed separately and subsequently integrated using a computational technique to infer epigenetic control of gene expression. Male mice exhibited widespread disruptions to the transcriptome across time points while females were more protected; in severe pathophysiologic phenotypes, the magnitude of change was similar between sexes. A conserved set of inflammation-related genes were dysregulated across cachexia progression and sex, including Osmr, Stat3, and Serpina3n. Epigenetic alterations in both sexes emerged in promoter regions as early as 10 days post tumor implant in C26 despite a lack of physiologic phenotype and prior to the transcriptome disruptions. Our integration analysis suggests methylome alterations as a mechanism of cachexia pathophysiology in severe phenotypes. A conserved feature across -omics layers, sexes, and conditions was dysregulated Runx1 and neurodegeneration-related pathways, which may indicate cachexia-mediated denervation. Overall, we provide evidence for the role of epigenetics in cachexia progression and severity and a valuable resource to the cachexia research communities.
    Keywords:  Biological sex; Epigenetics; Molecular signatures; Omics integration; Runx1
    DOI:  https://doi.org/10.1152/ajpcell.00751.2025
  2. Biochim Biophys Acta Mol Cell Res. 2025 Dec 04. pii: S0167-4889(25)00198-3. [Epub ahead of print] 120093
      Cancer cachexia is a multifactorial syndrome characterized by involuntary and pathological weight loss, predominantly caused by muscle wasting. While tumors can elicit detrimental effects on skeletal muscle function, the contribution of specific tumor-derived mediators remains elusive. To explore this, we investigated the impact of conditioned media (CM) from four cachexia-inducing tumor cell lines (KPC, 4662, LLC, and C26) on muscle differentiation using C2C12 cells. Creatine kinase (CK) activity was measured as an indicator of muscle wasting, and global gene expression changes in C2C12 cells were analyzed via RNA sequencing. Cytokine profiling of the CM identified 111 immune factors, and mimic combinations of the most abundant cytokines from KPC CM were tested for their effects on CK activity. Additionally, the involvement of tumor-derived PGE2 was assessed via CRISPR/Cas9-mediated knockout of the Ptgs2 gene in KPC cells. CM from all tumor cell lines significantly reduced CK activity in C2C12 cells, consistent with downregulation of CKm gene expression. Global gene expression profiles revealed upregulation of immune-related pathways in C2C12 cells exposed to KPC CM. However, mixtures of the 14 most abundant cytokines in CM had minimal effects on CK activity, and tumor-derived PGE2 showed no significant effect on CK activity or muscle cell differentiation. These findings suggest that the observed muscle-wasting effects of cachexia-inducing tumor cells cannot be replicated by the most abundant cytokines present in CM alone, highlighting the need for further research to identify the key tumor-derived factors responsible for cancer-induced muscle wasting.
    Keywords:  C2C12 cells; Cancer cachexia; Creatine kinase; Cytokines; Muscle wasting; PGE2
    DOI:  https://doi.org/10.1016/j.bbamcr.2025.120093
  3. Trends Pharmacol Sci. 2025 Dec 09. pii: S0165-6147(25)00271-8. [Epub ahead of print]
      The bioenergetic crisis in cancer cachexia arises from early mitochondrial dysfunction that precipitates muscle wasting. In a recent study, Angelino et al. found that tumor-derived signals suppress the cAMP-protein kinase A (PKA)-CREB1 axis, destabilizing mitochondrial homeostasis. Restoring cAMP signaling through phosphodiesterase 4 (PDE4) inhibition rescued mitochondrial function, highlighting a promising strategy to mitigate tumor-induced cachexia.
    Keywords:  PDE4; cancer cachexia; mitochondrial dysfunction
    DOI:  https://doi.org/10.1016/j.tips.2025.11.009
  4. PLoS One. 2025 ;20(12): e0338338
       INTRODUCTION: Intensive-care-unit-acquired-muscle-weakness is a debilitating complication of sepsis, characterized by loss of muscle mass and functionality. Immobilization is an important trigger, but the role of disturbed mechanical signaling is incompletely understood. In health, the integrin-receptor-complex with key components Kindlin2 (KIND2/Fermt2) and integrin-linked-kinase (ILK/Ilk1) converses mechanical forces into biochemical signals to regulate muscle mass. We hypothesize that this complex, through key elements KIND2 and ILK, plays a role in sepsis-induced-muscle-weakness.
    METHODS: AAV2/9-vectors expressing shRNA-sequences against Ilk1, Fermt2 or noncoding-control-gene were injected in tibialis anterior (TA) muscles of 24w-old male C57BL/6J mice. Two-weeks-post-injection, after knockdown validation, mice were made septic by cecal ligation and puncture. Five-days-post-sepsis muscle force, mass and fiber size were quantified and expression of mechanosensitive elements and downstream pathways of the integrin-receptor-complex was assessed.
    RESULTS: Two-weeks-post-injection the respective sh-targets were strongly suppressed (mRNA Ilk1-44%, Fermt2-76%, protein ILK -34%, KIND2-70%). In rAAV-sh-controls, sepsis induced upregulation across TA and EDL muscle of Ilk1 and Fermt2 and integrin-receptor-complex-related genes Itga7, ItgB1, Tln1, Lims1, Lims2, Parva (P < 0.001), whereas in SOL muscle Lims1, Lims2 and Fermt2 were not and Vcl1 (P < 0.001) was upregulated. In TA and EDL, but not in SOL, rAAV-shIlk1 and rAAV-shFermt2 attenuated upregulation of respective targets down to healthy controls, but without affecting expression of other integrin-receptor-complex-related genes. TA muscle force or weight were not affected by rAAV-shIlk1 or rAAV-shFermt2 (P > 0.05), whereas muscle fiber size reduction (-20.7% in Sepsis shControl) was attenuated up to -13.4% (Sepsis shIlk1, P < 0.001) and -12.3% (Sepsis shFermt2, P < 0.001). Sepsis or sh-treatment did not shift TA fiber types. Expression of markers of atrophy, inflammation, autophagy, protein synthesis and regeneration were affected by sepsis, but not by sh-treatment. Only markers of metabolism Slc2a4 (P < 0.05) and Rac1 (P < 0.01) were further affected by sh-treatment.
    CONCLUSIONS: Sepsis induced upregulation of integrin-receptor-complex-related genes but attenuating the upregulation of Ilk1 or Fermt2 did not affect the development of muscle weakness, although muscle fiber size was better preserved, arguing against a key role for Ilk1 or Fermt2.
    DOI:  https://doi.org/10.1371/journal.pone.0338338
  5. BMC Med. 2025 Dec 09. 23(1): 678
       BACKGROUND: White adipose tissue (WAT) dysfunction including an aberrant expression of miRNAs is strongly associated with the risk of developing type 2 diabetes (T2D), with limited evidence linking early changes in the WAT-derived miRNAs and T2D. The present study aims to identify early miRNome changes prognostic for T2D in mice and humans.
    METHODS: Gonadal (g) WAT of diabetes-resistant and diabetes-prone mice were subjected to multi-omics analyses (transcriptome, miRNome, methylome, proteome). Metabolic phenotypes linked with T2D were correlated with adipose tissue miRNA expression and DNA methylation from 14 monozygotic twin pairs discordant for T2D. Plasma miRNA levels from females at high risk of developing T2D (TÜF study) were included.
    RESULTS: Adipose tissue of the diabetes-susceptible mice was less insulin sensitive with ~ 200 differentially expressed mature miRNAs compared to diabetes-resistant mice. Integrative analysis of miRNome-transcriptome-proteome identified 227 proteins involved in amino acid metabolism, inflammation, signalling pathways, and insulin resistance. More than 20 differentially expressed miRNAs are located in the imprinted region Dlk1-Gtl2 and Mest (miR-335) potentially regulated by DNA methylation. Imprinted miRNAs also exhibited similar alterations in adipose tissue from monozygotic twin pairs discordant for T2D, with miR-335 expression altered only in females. Moreover, plasma levels of miR-335-5p were negatively correlated with fasting blood glucose in females at high risk of developing T2D.
    CONCLUSIONS: Early alterations of WAT-derived miRNAs such as miR-335-5p could contribute to systemic metabolic changes associated with the risk of developing T2D.
    Keywords:  Adipose tissue; Discordant monozygotic twins; Epigenetics; Imprinting; MicroRNA (miRNA); Multiomics; New Zealand Obese (NZO) mice; Type 2 diabetes (T2D)
    DOI:  https://doi.org/10.1186/s12916-025-04560-7
  6. Eur J Neurol. 2025 Dec;32(12): e70416
       BACKGROUND: We systematically evaluated the different components of the motor unit using an integrated set of noninvasive electrophysiological techniques across a broad spectrum of disease severity in symptomatic adolescents and adults with spinal muscular atrophy types 1-4.
    METHODS: We performed detailed electrophysiological mapping of the median nerve, including the compound muscle action potential scan, and repetitive nerve stimulation, in 104 genetically confirmed patients with SMA (aged ≥ 12 years, types 1c-4) before the start of DMT. We compared data to a reference group of 65 healthy controls.
    RESULTS: Motor unit patterns were significantly altered in patients with SMA, showing severe motor unit loss and enlarged motor units. Distinct patterns reflected disease severity, independent of age or disease duration. Patterns were characterized by varying proportions of enlarged motor units relative to motor unit number, with significantly reduced motor unit number and high contributions of enlarged units in advanced disease stages. Neuromuscular junction (NMJ) dysfunction (≥ 10% decrement) was present in 13%-38% of patients, irrespective of SMA severity. In line with these findings, clinical motor function scores correlated with greater motor unit loss and higher contributions of enlarged motor units.
    CONCLUSIONS: We identified altered motor unit patterns and NMJ function in patients with SMA, with distinct patterns across SMA severity independent of age or disease duration. These measures may serve as complementary biomarkers for disease severity in patients with SMA.
    TRIAL REGISTRATION: Dutch registry for clinical studies and trials (www.toetsingonline.nl): NL72562.041.20 (March 26, 2020).
    Keywords:  compound muscle action potential; motor unit; neuromuscular junction; repetitive nerve stimulation; spinal muscular atrophy
    DOI:  https://doi.org/10.1111/ene.70416
  7. J Cachexia Sarcopenia Muscle. 2025 Dec;16(6): e70154
       BACKGROUND: Chronic obstructive pulmonary disease (COPD) is frequently associated with cachexia, leading to poor prognoses and reduced quality of life. However, the mechanisms underlying adipose tissue atrophy, its pathological significance and its interaction with skeletal muscle remain poorly understood. We hypothesised that adipose tissue atrophy precedes muscle wasting in COPD-associated cachexia, and muscle atrophy progresses through adipose-muscle crosstalk.
    METHODS: We analysed chest computed tomography scans of 185 patients with COPD to quantify the cross-sectional areas of the pectoralis muscle (PM), subcutaneous adipose tissue (SAT) and epicardial adipose tissue (EAT), and the percentage of low attenuation area (LAA%) as an index of emphysema. To elucidate the pathophysiological mechanisms underlying cachexia in COPD, we performed histological and molecular analyses of the lung, muscle and adipose tissues over time in a cigarette smoke-induced emphysema mouse model. Further, we used an in vitro culture system of differentiated adipocytes (3T3-L1) and myotubes (C2C12) to study the effects of cigarette smoke extract (CSE) on adipose-muscle interaction.
    RESULTS: In patients with COPD, the areas of PM, SAT and EAT all demonstrated significant negative correlations with LAA%; notably, PM and EAT were independently associated with the extent of emphysematous changes. In the smoke-exposed murine model, adipose tissue atrophy was observed after 1 month of exposure, accompanied by increased expressions of IL-6 and IL-1β, macrophage infiltration and the upregulation of the lipolytic enzymes ATGL and HSL. The adipose atrophy had further progressed after 3 months of exposure, and the high expression of UCP1 was sustained, which suggested the browning of adipose tissue. Conversely, muscle atrophy was not evident at 1 month but became apparent after 3 months, coinciding with emphysema development. This was associated with the downregulation of the myogenic markers MyoD and Myogenin and the upregulation of the muscle degradation marker Atrogin-1. In vitro experiments revealed that CSE exposure reduced lipid droplet content and induced IL-6 and IL-1β expressions in adipocytes. Conditioned media from CSE-treated adipocytes triggered myotube atrophy and downregulated MyoD and Myogenin but upregulated Atrogin-1.
    CONCLUSIONS: Our findings indicate that cigarette smoke-induced adipose tissue atrophy precedes muscle wasting, and alterations in adipose tissue may contribute to muscle atrophy progression. Adipose tissue dysfunction may be implicated in the development of cachexia in patients with COPD, highlighting its potential as a therapeutic target.
    Keywords:  adipose tissue atrophy; cachexia; chronic obstructive pulmonary disease; muscle wasting
    DOI:  https://doi.org/10.1002/jcsm.70154
  8. Med Oncol. 2025 Dec 10. 43(1): 40
      Cancer cachexia, a multifactorial debilitating syndrome, highly impacts the quality of life, treatment tolerance, and survival among the cancer patients. Mainly characterized by progressive weight loss, skeletal muscle atrophy, and metabolic dysregulation, it is essentially an unmet medical need. This review explores the roles of metronomic chemotherapy (mCT) and drug repurposing as innovative strategies for cachexia prevention and management. Metronomic chemotherapy, a low-dose chemotherapeutic drug administration, shows reduced toxicity, anti-angiogenic, and immunomodulatory effects over Maximum Tolerated Dose (MTD), potentially mitigates chemotherapy-induced cachexia, and improves treatment tolerability. Drug repurposing, in which an existing drug is utilized for a new indication, has the advantages of rapid development, reduced costs, and established safety profiles. It provides targeted interventions against the complex inflammatory and metabolic pathways underlying cachexia. A good number of preclinical and early clinical studies have shown evidence for both approaches, particularly for Ponsegromab, a Growth Differentiation Factor-15 (GDF-15) inhibitor. Due to the multifactorial nature of cachexia, a multimodal, integrated intervention is a good substitute for the maximum tolerated dose, which can be effective against it. Future directions in cancer therapy should emphasize the development of robust clinical trial designs with cachexia-specific endpoints to advance precision prevention strategies.
    Keywords:  Cancer cachexia; Metronomic chemotherapy; Muscle wasting; Progressive weight loss; Repurposing
    DOI:  https://doi.org/10.1007/s12032-025-03166-6
  9. FEBS J. 2025 Dec 12.
      While most human genes express mRNA 3'untranslated region (3'UTR) variants of different lengths, their impact on cell physiology and disease remains largely unknown. Here, we studied 3'UTR length heterogeneity in amyotrophic lateral sclerosis (ALS) and determined that three ALS-linked transcripts exhibit lengthening of their 3'UTRs in patient samples. We investigated phenotypical effects in a neuronal cell line expressing these 3'UTRs and observed that expression of these unique 3'UTRs induces morphological changes at different levels. Among the most expressed 3'UTR variants in ALS, NEFH 3'UTR-Long induces the formation of nuclear RNA clusters, and Superoxide Dismutase 1 3'UTR-Long diminishes filopodia in the plasma membrane. Sequestosome 1 3'UTR-Long did not show major changes in nuclear RNA clusters or filopodia. Our findings provide the first evidence that 3'UTRs can modulate cellular phenotype independent of the coding region, further expanding the impact of alterations in mRNA biogenesis in ALS.
    Keywords:  3′UTR variants; ALS; RNA clusters; filopodia; lamellipodia
    DOI:  https://doi.org/10.1111/febs.70364
  10. J Biol Chem. 2025 Dec 05. pii: S0021-9258(25)02858-3. [Epub ahead of print] 111006
      Adenosine-to-inosine (A-to-I) RNA editing can affect microRNA (miRNA) activity, but its role in skeletal muscle development remains unclear. Here, we investigated miR-376b-3p in goat skeletal muscle satellite cells (MuSCs), which undergo ADAR1-mediated editing at the sixth nucleotide of its seed sequence. Although both isoforms were detected, the unedited miR-376b-3p (miR-WT) predominated over the edited form (miR-E) during skeletal muscle development and MuSC differentiation. Functional assays revealed that miR-WT, but not the miR-E type, enhanced MuSC proliferation and differentiation by upregulating Pax7, PCNA, MyoD, MyoG, and MyHC, and promoting myotube formation. Furthermore, we identified Ring1 and YY1 binding protein (RYBP), a repressor of myogenesis, as a direct target of miR-WT. Overexpression of RYBP inhibited MuSC differentiation, while miR-WT relieved this repression through direct binding to the RYBP 3'UTR. In contrast, miR-E failed to target RYBP and lacked pro-myogenic activity. These findings demonstrate that A-to-I editing attenuates the function of miR-376b-3p, highlighting its role as a post-transcriptional regulator of skeletal muscle development.
    Keywords:  A-to-I editing; MuSCs; RYBP; differentiation; miR-376b-3p; proliferation
    DOI:  https://doi.org/10.1016/j.jbc.2025.111006
  11. JCI Insight. 2025 Dec 08. pii: e195341. [Epub ahead of print]10(23):
      Obesity and type 2 diabetes (T2D) are metabolic diseases with increasing prevalence worldwide. Obesity often leads to T2D. Insulin resistance and impaired β cell function contribute to the onset of hyperglycemia. Previously, we reported that ablation of Gc, encoding a secreted protein with a primary role in vitamin D transport, improved pancreatic β cell function in models of diet-induced insulin resistance. Here, we show that Gc ablation had systemic insulin-sensitizing effects to prevent weight gain, hyperglycemia, and glucose intolerance; lower nonesterified fatty acids and triglycerides; and augment glucose uptake in skeletal muscle and adipose in male mice fed a high-fat diet. Interestingly, weight loss in Gc-ablated mice resulted from selective fat mass loss with preserved lean mass. Moreover, acute Gc inhibition prevented glucose intolerance caused by high-fat feeding. The data suggest that Gc inhibition can increase insulin production in β cells and insulin action in peripheral tissues, while reducing fat mass.
    Keywords:  Diabetes; Endocrinology; Metabolism; Obesity
    DOI:  https://doi.org/10.1172/jci.insight.195341