bims-moremu Biomed News
on Molecular regulators of muscle mass
Issue of 2025–06–08
27 papers selected by
Anna Vainshtein, Craft Science Inc.



  1. bioRxiv. 2025 May 19. pii: 2025.05.15.654390. [Epub ahead of print]
      Skeletal muscle regeneration in chronic muscle diseases such as Duchenne Muscular Dystrophy (DMD) has remained clinically unsurmountable. Estrogen-related receptor alpha (ERRα) plays a critical role in adult skeletal muscle metabolism and exercise fitness. Whether ERRα activation can drive muscle regeneration and mitigation of dystrophy in DMD is not known. We have investigated ERRα signaling in pre-clinical models of acute muscle injury and DMD. ERRα is induced in differentiating C2C12 myoblast and regenerating muscle. ERRα silencing suppressed proliferation and differentiation in C2C12 myoblasts. RNA sequencing revealed that angiogenic factor and proliferation genes were downregulated by ERRα knockdown in proliferating cells, whereas oxidative mitochondrial and differentiation regulator genes were downregulated in differentiating cells. In accordance with in vitro findings, transgenic ERRα overexpression in rodent skeletal muscle stimulates muscle regeneration after acute BaCl 2 injury, which is accompanied by enhanced angiogenesis and mitochondrial biogenesis. Notably, ERRα and its angiogenic and metabolic target gene expression is suppressed in muscle stem cells (MuSCs) derived from dystrophic muscles in mdx mice, coinciding with proliferation and differentiation defect in these cells. Loss of ERRα and its target gene expression was recapitulated in adult dystrophic mdx muscles. Consequently, muscle specific ERRα overexpression in mdx mice restored angiogenic and metabolic gene expression, induced vascular and oxidative remodeling, alleviated baseline muscle damage, and boosted regeneration after BaCl2 injury in dystrophic muscle. Our studies demonstrate a pro-regenerative role of ERRα and its deficiency in dystrophic muscles and its MuSCs. ERRα restoration could be a therapeutic strategy for DMD through angio-metabolic gene program.
    DOI:  https://doi.org/10.1101/2025.05.15.654390
  2. Am J Physiol Cell Physiol. 2025 Jun 05.
      Myogenic regulatory factors, including myoblast determination protein 1 (MyoD1 or MyoD) and myogenic factor 5 (Myf5), crucially regulate skeletal muscle lineage specification and development. Although MyoD and Myf5 exhibit overlapping functions during embryogenesis, their roles significantly diverge in adult muscles. Single MyoD knockout analysis revealed that MyoD uniquely regulates adult muscle regeneration, considerably influencing delayed myogenic differentiation, enhancing self-renewal, and modulating apoptosis resistance. These findings highlight fundamental differences between embryonic and adult myogenesis. Recent advances in single-cell technologies have revealed the heterogeneity of MyoD expression among adult muscle stem cells (MuSCs), thereby elucidating its diverse functional roles during muscle regeneration. Furthermore, MyoD has been implicated in the regulation of myofiber type specification and plasticity in mature skeletal muscles. Overall, these findings suggest that MyoD serves as a key orchestrator in cellular, functional, and pathological processes in adult skeletal muscle across multiple contexts. Although previous reviews have extensively addressed the role of MyoD in embryonic muscle development, the available literature lacks a focused discussion on its multifaceted functions in adult MuSCs, mature myofibers, and the aging process. In this review, we aimed to bridge this gap by integrating recent discoveries and offering novel insights into the dynamic roles of MyoD in adult skeletal muscles; the information discussed in this review has potential therapeutic implications in muscle regeneration, disease management, and combating age-related muscle decline.
    Keywords:  Duchenne Muscular Dystrophy; Muscle Stem Cell; MyoD; Myofiber; Regeneration
    DOI:  https://doi.org/10.1152/ajpcell.00334.2025
  3. Cell Death Dis. 2025 Jun 05. 16(1): 437
      Satellite cells are muscle-resident stem cells that maintain and repair muscle. Increasing evidence supports the contributing role of satellite cells in Duchenne muscular dystrophy (DMD), a lethal degenerative muscle disease caused by loss of dystrophin. However, whether or not satellite cells exhibit dysfunction due to loss of dystrophin remains unresolved. Here, we used single-cell RNA-sequencing (scRNA-seq) to determine how dystrophin deficiency impacts the satellite cell transcriptome and cellular composition by comparing satellite cells from mdx and the more severe D2-mdx DMD mouse models. DMD satellite cells were disproportionally found within myogenic progenitor clusters and a previously uncharacterized DMD-enriched cluster. Despite exposure to different dystrophic environments, mdx and D2-mdx satellite cells exhibited overlapping dysregulation in gene expression and associated biological pathways. When comparing satellite stem cell versus myogenic progenitor populations, we identified unique dysfunctions between DMD and healthy satellite cells, including apoptotic cell death and senescence, respectively. Pseudotime analyses revealed differences in cell fate trajectories, indicating that DMD satellite cells are stalled in their differentiation capacity. In vivo regeneration assays confirmed that DMD satellite cells exhibit impaired myogenic gene expression and cell fate dynamics during regenerative myogenesis. These defects in differentiation capacity are accompanied by impaired senescence and autophagy dynamics. Finally, we demonstrate that inducing autophagy can rescue the differentiation of DMD progenitors. Our findings provide novel molecular evidence of satellite cell dysfunction in DMD, expanding on our understanding of their role in its pathology and suggesting pathways to target and enhance their regenerative capacity.
    DOI:  https://doi.org/10.1038/s41419-025-07755-1
  4. Am J Physiol Cell Physiol. 2025 Jun 04.
      Like mammals, zebrafish repair skeletal muscle through a multi-step process that involves satellite cell activation, differentiation of progenitor cells into myocytes, their fusion into myotubes, followed by myotube maturation and myofiber hypertrophy. Coordination and timely regulation of these events are essential for functional muscle recovery. Here we identify ankrd1a, a gene responsive to muscle stress, as a new player in the repair of adult zebrafish skeletal muscle and show its involvement in modulating molecular mechanisms behind myogenic cell differentiation. It is expressed in newly forming muscle fibers from the stage of myoblast-like cells to their differentiation into mature myofibers, as well as in the apparently intact muscle fibers that surround the injury. Loss of ankrd1a function alters regulatory pathways involved in muscle cell differentiation, contraction, and myocyte fusion, leading to the acceleration of myogenic differentiation. Our data point to ankrd1a as a novel marker of newly forming myofibers and a hallmark of the adaptive process occurring in the intact myofibers that are in contact with wounded tissue. Without affecting the main regulatory networks, ankrd1a fine-tunes skeletal muscle repair by preventing premature myogenic differentiation during injury repair, which itself could impair functional recovery.
    Keywords:  ankrd1a; regeneration; skeletal muscle; tissue repair; zebrafish
    DOI:  https://doi.org/10.1152/ajpcell.00807.2024
  5. J Physiol. 2025 May 31.
      
    Keywords:  exercise physiology; insulin resistance; muscle atrophy; muscle metabolism; oxidative phosphorylation; rehabilitation; resistance training; transcription
    DOI:  https://doi.org/10.1113/JP288265
  6. Kidney360. 2025 Jun 04.
       BACKGROUND: Understanding the vicious cycle driving renal impairment progression and skeletal muscle atrophy in chronic kidney disease (CKD) is crucial. Therefore, this study aimed to examine the role of transforming growth factor-beta (TGF-β) in promoting skeletal muscle atrophy in CKD.
    METHODS: A combined model of 2/3 nephrectomy and unilateral ureteral ligation, as we previously reported, was used for CKD mice. Skeletal muscle weight and changes in skeletal muscle fiber twitch type were evaluated. Using C2C12 cells, a skeletal muscle myoblast cell line, molecules that induce a reduction in type IIa muscle fibers in CKD were identified. The identified molecule, TGF-β, was administered to mice to investigate its effects on muscle fiber-type changes. Furthermore, the effects of administering a TGF-β inhibitor to CKD mice were evaluated.
    RESULTS: In CKD mice, myosin heavy chain (MyHC)-specific antibody immunostaining showed an increase in atrophied MyHC IIa (oxidative twitch) muscle fibers. CKD mouse serum preferentially induces MyHC IIa fiber atrophy in C2C12 cells. TGF-β-treated mice had reduced levels of oxidative metabolic skeletal muscle and oxidative type IIa fiber, similar to CKD mice. Furthermore, TGF-β inhibitor treatment prevented the CKD-associated decrease in oxidative type IIa muscle fiber size and reduced exercise capacity.
    CONCLUSIONS: These findings indicate that TGF-β causes skeletal muscle deterioration in CKD by reducing oxidative metabolism and inducing type IIa fiber atrophy. In addition, our results emphasize that reversing the disrupted MyHC phenotype in CKD is a potential therapeutic target for CKD-induced muscle atrophy.
    DOI:  https://doi.org/10.34067/KID.0000000852
  7. Nat Commun. 2025 Jun 05. 16(1): 5233
      The capacity to regenerate skeletal muscle after injury requires a complex and well-coordinated cellular response, which is challenged in aged skeletal muscle. Here, we unravel the intricate dynamics of elderly human skeletal muscle regeneration by combining spatial, temporal, and single cell transcriptomics. Using spatial RNA sequencing (n = 3), we profile the expression of human protein-coding genes in elderly human skeletal muscle biopsies before as well as 2-, 8-, and 30-day post injury (NCT03754842). Single Cell-Spatial deconvolution analysis highlights monocytes/macrophages and fibro-adipogenic progenitors (FAPs) as pivotal players in human muscle regeneration. By utilizing flow cytometry (n = 9) and cell sorting we confirm the increased cellular content and activity during regeneration. Spatial correlation analysis unveils FAPs and monocytes/macrophages co-localization and intercellular communication, mediated by complement factor C3. Immunostaining confirms C3 expression in FAPs and FAP secretion of C3, suggesting a role in phagocytosis of necrotic muscle cells. Finally, functional assays demonstrate C3's impact on human monocyte metabolism, survival and phagocytosis, unveiling its involvement in skeletal muscle regeneration. These insights elucidate the FAP-macrophage interplay in aged human muscle with perspectives for future therapeutic interventions to reduce the age-induced decline in regenerative capacity.
    DOI:  https://doi.org/10.1038/s41467-025-60627-2
  8. J Muscle Res Cell Motil. 2025 Jun 02.
      A brief discussion about skeletal muscle, aberrant expression of dystrophin from null mutations of the gene, potential explanations as to why this occurs, and how understanding this could be useful for potential therapies in the future.
    Keywords:  Dystrophin; Muscular dystrophy; Satellite cells; Skeletal muscle
    DOI:  https://doi.org/10.1007/s10974-025-09697-9
  9. J Cachexia Sarcopenia Muscle. 2025 Jun;16(3): e13849
       BACKGROUND: Anticancer chemotherapy is an underappreciated contributor to cancer cachexia, an often-irreversible body-wasting condition that causes 20%-30% of cancer-related deaths. An obstacle to predicting, monitoring and understanding the mechanisms underlying chemotherapy cachexia is that each cancer (and subtype) is assigned different chemotherapeutic compounds, typically in multiagent regimens. Here, we investigate the chemotherapy induction regimen (CIR) used in the haematological cancer, acute myeloid leukaemia (AML). We hypothesised that the AML CIR would induce cachexia, including loss of lean tissue mass and skeletal muscle atrophy.
    METHODS: Using an unbiased proteomics approach, we interrogated the underlying molecular mechanisms. Three-month-old male Balb/c mice were treated with the AML CIR via intraperitoneal injections of daunorubicin (1.7 mg/kg) on Days 1-3 and cytarabine (33.2 mg/kg) administered on Days 1-7 or vehicle. Mice were assessed 24 h after the last treatment, on Day 8, or allowed to recover for 2 weeks and assessed on Day 22. A third cohort was given access to running wheels in cages. We assessed body composition and whole-body metabolism and assessed the muscle proteome using quantitative tandem mass tag labelling LC-MS/MS analysis. Data are available via ProteomeXchange with identifier PXD063910.
    RESULTS: The AML CIR-induced acute cachexia involved a ~10% loss of body mass, ~10% loss of lean mass and ~20% reduction in skeletal muscle fibre size. Whole-body metabolism and ambulatory activity declined. This cachexic phenotype did not recover over the 2-week post-CIR period (lean mass loss post-CIR: 1 week ~7% vs. 2 weeks ~9%). In voluntarily active CIR-treated mice, body wasting was exacerbated due to unchecked loss of fat mass (CIR sedentary: ~31% vs. CIR active: ~51%). Muscle proteome studies revealed upregulation of haptoglobin (Hp) and glutamine synthetase (Glul), which were positively correlated with body and lean mass loss. Hp was sensitive to the conditional induction, recovery and exacerbation of AML CIR-mediated cachexia, suggestive of biomarker potential.
    CONCLUSIONS: The AML CIR induces an acute reduction of body, lean and fat mass underpinned by skeletal muscle atrophy, hypermetabolism and catabolism. Our data uncovered a conditionally sensitive muscle biomarker in Hp, which may be useful as a prognostic tool across other scenarios of chemotherapy-induced myopathy and cachexia or as a target for therapeutic discovery in follow-up studies.
    Keywords:  anticancer chemotherapy; atrophy; biomarkers; cachexia; haptoglobin; skeletal muscle wasting
    DOI:  https://doi.org/10.1002/jcsm.13849
  10. Biomol Concepts. 2025 Jan 01. 16(1):
      The interaction between exercise and mitochondrial biogenesis in skeletal muscle is fundamental to human physiology, with important implications for health and athletic performance. While exercise is known to stimulate mitochondrial biogenesis, the effectiveness of varying-intensity exercise remains unclear. This systematic review and meta-analysis aimed to evaluate the impact of physical activity on mitochondrial biogenesis pathways in skeletal muscle and identify key biomolecular markers in healthy individuals. Among these, PGC-1α emerged as the most consistently reported marker. The meta-analysis showed a significant increase in PGC-1α expression following endurance exercise, with a pooled effect size of Hedge's g = 1.17 (95% confidence interval: 0.14-2.19, I 2 = 84.5%), indicating a large effect with substantial heterogeneity. Subgroup analyses revealed that both interval and continuous endurance training produced large effects (Hedge's g = 1.29 and 1.01, respectively), with no significant difference between modalities (p > 0.05). These findings confirm that exercise induces significant molecular and structural mitochondrial adaptations, with responses influenced by exercise type, intensity, and duration. This underscores exercise as a potent stimulus for mitochondrial biogenesis, supporting its role in promoting metabolic health and physical performance.
    Keywords:  PGC1 alpha; endurance; mitochondrial biogenesis; skeletal muscle; strength training
    DOI:  https://doi.org/10.1515/bmc-2025-0055
  11. bioRxiv. 2025 May 21. pii: 2025.05.17.654676. [Epub ahead of print]
       Background: Actin filament organization in cardiomyocytes critically depends on the formin Fhod3, but no role has been previously described for Fhod3 in skeletal muscle development.
    Results: We demonstrate here that in zebrafish mutated for one of two fhod3 paralog genes, fhod3a , skeletal muscle of the trunk appears normal through 2 days post-fertilization, but afterward exhibits myofibril damage, including gaps between myofibrils and myofibril fragmentation. Although myofibril damage appears progressive, fhod3a mutant embryos differ from muscular dystrophy models in that damage is not activity-dependent, but is exacerbated by inhibition of muscle activity. Moreover, fhod3a mutants show no evidence of sarcolemma disruption. Rather, our results suggest myofibril damage coincides with growth of the skeletal muscle fiber contractile apparatus. Neither the second paralog, fhod3b , nor the more distantly related fhod1 appear to contribute to embryonic skeletal muscle development, but simultaneous mutation of fhod3a and fhod3b was associated with pericardial edema suggestive of cardiac dysfunction.
    Conclusions: Taken together, these results indicate a fhod3 homolog is dispensable for initial myofibril assembly in skeletal muscle, but promotes myofibril stability during muscle fiber growth. This is the first demonstration that Fhod3 contributes to skeletal muscle development in a vertebrate.
    DOI:  https://doi.org/10.1101/2025.05.17.654676
  12. bioRxiv. 2025 May 17. pii: 2025.05.13.653766. [Epub ahead of print]
      Unlike traditional anti-inflammatory therapies which may interfere with musculoskeletal tissue repair, pharmacological administration of specialized pro-resolving lipid mediators (SPMs) can promote timely resolution of inflammation while stimulating skeletal muscle regeneration. Despite this, the potential role of endogenous inflammation-resolution circuits in skeletal muscle injury and repair remains unknown. Here, we investigated the effect of whole-body knockout of leukocyte-type 12/15-lipoxygenase (12/15-LOX) on acute inflammation and regeneration following skeletal muscle injury in mice. Prior to muscle injury, Alox15 -/- mice displayed lower intramuscular concentrations of 12/15-LOX-derived lipid mediators than wild type (WT) mice, and this was associated with chronic low-grade muscle inflammation. Alox15 -/- mice mounted an exaggerated acute immune response to sterile skeletal muscle injury which was associated with a local imbalance of pro-inflammatory vs. pro-resolving lipid mediators. During the regenerative phase, Alox15 -/- mice displayed defects in myogenic gene expression, myofiber size, and myonuclear accretion. Mechanistically, bone marrow-derived macrophages (MФ) obtained from Alox15 -/- mice produced less 12/15-LOX-derived lipid mediators and this was associated with impaired M2 polarization. Isolated myogenic progenitor cells also produced many LOX metabolites in response to long chain polyunsaturated fatty acid (LC-PUFA) supplementation, including bioactive SPMs. Alox15 -/- myoblasts were both impaired in their ability to produce SPMs and were insensitive to the stimulatory effect of LC-PUFAs on in vitro myogenesis. These data show that the 12/15-LOX pathway is essential for timely resolution of acute inflammation and direct determination of myogenic progenitor cell fate following skeletal muscle injury.
    DOI:  https://doi.org/10.1101/2025.05.13.653766
  13. J Physiol. 2025 May 31.
      Heterogeneity in the response to exercise training is widely demonstrated in the literature. Although the variability in exercise acclimation is not entirely understood, a large portion of exercise response variability is attributable to genetic heritability potentially due to inherited maternal mitochondrial characteristics. Humans exhibit a heterogenous genome and mitochondrial haplotype; however much of the preclinical research proposed to investigate molecular transducers of exercise has been implemented using mouse models that lack mitochondrial and nuclear genomic diversity. Leveraging a novel rat model of heterogeneous genome, OKC-HET rats, we investigated the impact of mitochondrial (mt) haplotype on exercise training. We hypothesized that rats with divergent mitochondrial genomes will respond differently to endurance exercise training. OKC-HET rats aged 18-19 months old were subjected to 8 weeks of voluntary wheel running as their endurance exercise training programme. We found mt haplotype-specific effects on responses to endurance exercise and motor co-ordination, which were consistent with mitochondrial bioenergetics and markers of oxidative stress. Mitochondrial copy number and the expression of mitochondrial proteins were similar between the two mt haplotypes, suggesting intrinsic alterations of mitochondrial functions by the two distinct mitochondrial genomes. Motor co-ordination and fragmentation of acetylcholine receptors were also affected by mitochondrial haplotype. The mt haplotype effects on training responses were specific to biological sex also. Collectively we report that mitochondrial haplotype significantly affects responses to endurance exercise in a sex-specific manner. KEY POINTS: Mitochondrial haplotype affects the responses to endurance exercise. Sex modulates the effects of mitochondrial haplotype in the responses to endurance training. Mitochondrial DNA (mtDNA) deletion frequency increases following endurance exercise. mtDNA deletion frequency is higher in males than females after endurance exercise in OKC-HET rats.
    Keywords:  endurance exercise; mitochondrial DNA; mitochondrial bioenergetics; mitochondrial haplotype; motor co‐ordination; neuromuscular junction; sex
    DOI:  https://doi.org/10.1113/JP288330
  14. Am J Physiol Cell Physiol. 2025 Jun 02.
      Alterations to the extracellular matrix of skeletal muscle are implicated in age-related declines in muscle quality. Reduced collagen breakdown and collagen accumulation between muscle fibres are suggested to reduce the force-generating capacity of the muscle and impede adaptation to mechanical loading. The current study investigated total intramuscular collagen content in healthy, physical fitness-matched young and older skeletal muscle and how regulators of collagen breakdown respond to an acute bout of resistance exercise. No differences in intramuscular collagen content between young (5.4% ± 2.1) and older muscle (5.1% ± 3.1, p=0.779) were found. Seventy-two hours after resistance exercise, matrix metalloproteinase (MMP) and tissue inhibitors of metalloproteinase (TIMP) gene expression (MMP2, p=0.003; MMP9, p=< 0.001; MMP14, p=0.008; TIMP1, p=<0.001), protein content (MMP14 proenzyme, p=0.016) and protein activity (MMP2, p=0.009; MMP9, p=0.014) were elevated in both young and older muscle. An age-by-time interaction was demonstrated 72 hours post-exercise, with older adults demonstrating more MMP14 enzyme content at this time point than young adults (p=0.02). Main effects of age were demonstrated for MMP2 (p=<0.001), MMP14 (p=0.008) and TIMP2 (p=<0.001) gene expression. No significant differences were observed between baseline and 6 hours post-exercise in either age group. Acute resistance exercise potently stimulates upregulation of markers of collagen breakdown in healthy young and older skeletal muscle. Further research is warranted to determine the precise roles of MMPs and TIMPs in skeletal muscle's response to mechanical loading.
    Keywords:  MMP14; MMP2; MMP9; extracellular matrix; matrix metalloproteinase
    DOI:  https://doi.org/10.1152/ajpcell.00992.2024
  15. J Physiol. 2025 May 31.
      
    Keywords:  diabetes; gene expression; insulin resistance; skeletal muscle
    DOI:  https://doi.org/10.1113/JP289113
  16. Front Cell Dev Biol. 2025 ;13 1602607
      The skeletal muscle, one of the largest tissues in mammals, plays a crucial role in maintaining body movement and energy metabolism. Dysfunction or damage to the skeletal muscle can lead to various muscle diseases, such as muscular dystrophy, myasthenia, and others. The myofiber presents the fundamental structural unit of the skeletal muscle, and research on its structure and biological function is of great significance. Here, we review the latest progress in the structural and functional aspects of the myofiber, focusing on myofibril, the sarcoplasmic reticulum, mitochondria, and the cytoskeleton. The basic properties and dynamic interactions of a large number of muscle proteins have been described in detail, including the scaffold construction of core protein components and the fine-tuning of secondary protein components with functional redundancy. This overview provides new insights into skeletal muscle pathophysiology.
    Keywords:  cytoskeleton; mitochondria; myofibril; sarcoplasmic reticulum; skeletal myofiber
    DOI:  https://doi.org/10.3389/fcell.2025.1602607
  17. Cancer Metab. 2025 Jun 05. 13(1): 27
       BACKGROUND: Despite decades of efforts to find successful treatment approaches, cachexia remains a major unmet medical need. This condition, that affects patients with diverse underlying conditions, is characterized by severe muscle loss and is associated with reduced quality of life and limited survival. Search for underlying mechanisms that may guide cachexia treatment has mainly evolved around potential atrophy-inducing roles of inflammatory mediators, and in cancer patients, tumor-derived factors. Recently, a new paradigm emerged as it is becoming evident that specific immune cells inhabit atrophic muscle tissue. Arginase 1 (Arg1) expression is characteristic of these immune cells. Studies of potential contributions of these immune cells to loss of muscle mass and function is in its infancy, and the contribution of ARG1 to these processes remains elusive.
    METHODS: Analyses of RNA sequencing data from murine cachexia models and comprehensive, unbiased open approach proteomics analyses of skeletal myotubes was performed. In vitro techniques were employed to evaluate mitochondrial function and capacity in skeletal muscle cells and cardiomyocytes. Functional bioassays were used to measure autophagy activity. ARG1 level in patients' plasma was evaluated using ELISA, and the association between ARG1 level and patient survival, across multiple types of cancer, was examined using the online database Kaplan-Meier plotter.
    RESULTS: In line with arginine-degrading activity of ARG1, we found signs of arginine restriction in atrophic muscles. In response to arginine restriction, mitochondrial functions and ATP generation was severely compromised in both skeletal muscle cells and in cardiomyocytes. In skeletal muscle cells, arginine restriction enhanced the expression of autophagic proteins, suggesting autophagic degradation of cellular content. Reduction in mitochondria marker TIMM23 supports selective autophagic degradation of mitochondria (mitophagy). In arginine starved cardiomyocytes, mitochondrial dysfunction is accompanied by both increased bulk autophagy and mitophagy. In cancer patients, we found an association between ARG1 expression and accelerated weight loss and reduced survival, further supporting a role of ARG1-producing cells in cachexia pathogenesis.
    CONCLUSION: Together, our findings point to a mechanism for cachexia which depends on expansion of ARG1-expressing myeloid cells, local restriction of arginine, loss of mitochondrial capacity and induced catabolism in skeletal muscle cells and in the heart.
    Keywords:  ARG1; Arginine; Autophagy; Cachexia; Cancer; Mitochondria; Mitophagy; Muscle; Myeloid-derived suppressor cell; Neutrophil
    DOI:  https://doi.org/10.1186/s40170-025-00396-0
  18. J Appl Physiol (1985). 2025 Jun 06.
      We recently reported that resistance trained (T, n=10) and untrained (UT, n=11) young adults experience vastus lateralis (VL) muscle atrophy following two weeks of disuse, and 8 weeks of recovery resistance training (RT) promotes VL hypertrophy in both participant cohorts. Skeletal muscle angiogenesis is appreciated for supporting skeletal muscle hypertrophy, but its activity following disuse-induced atrophy in humans is largely unexplored in the context of RT. Thus, we sought to determine whether these outcomes were affected. VL biopsies were obtained at baseline (PRE), immediately after disuse (MID), and after RT (POST). Western blotting was used to assay angiogenesis markers and immunohistochemistry was performed in 16/21 participants to determine type I and II muscle fiber capillary number. Significant main effects of time (p<0.05) were observed for protein levels of VEGF (MID<POST), VEGFR2 (PRE&MID<POST), TSP-1 (PRE<POST), TIMP1 (MID<POST), phosphorylated/pan eNOS (Ser1177) (POST<PRE), and pan eNOS (PRE<POST). VEGFR2 exhibited a training status*time interaction (p=0.018), but no differences existed between T and UT at any time point. A significant main effect of time was observed for type II fiber capillary number (PRE<POST), and type II fiber cross-sectional area (fCSA) increased from MID to POST (+25%, p<0.001) and PRE to POST (+20%, p=0.019). No significant correlations exist for percentage changes in type II fiber capillary number and type II fCSA from PRE-to-MID (r= 0.020), MID-to-POST (r= 0.392), or PRE-to-POST (r= -0.120) across all participants (p>0.100). Although disuse and recovery RT affect skeletal muscle angiogenesis-related protein targets, prior training history does not differentially affect these outcomes.
    Keywords:  VEGF; capillaries; disuse; resistance training; skeletal muscle
    DOI:  https://doi.org/10.1152/japplphysiol.00988.2024
  19. J Physiol. 2025 May 31.
      
    Keywords:  ageing; muscle adaptation; muscle atrophy; muscle development; performance; training; transgender
    DOI:  https://doi.org/10.1113/JP288757
  20. bioRxiv. 2025 May 12. pii: 2025.05.12.653518. [Epub ahead of print]
      Gene editing holds great promise for muscular dystrophy treatment, but the rapid evaluation of different editing modalities in skeletal muscle in vivo remains challenging due to lack of simple, effective delivery tools. Here we demonstrate that selective organ targeting (SORT) lipid nanoparticles (LNP) encapsulating optimized Cas9 cargo can facilitate efficient, local delivery to skeletal muscles achieving editing rates ≥35% and restore protein expression for a proof-of-concept muscular dystrophy target. Interestingly, efficient editing in skeletal muscle was observed despite a strong adaptive immune response to repeat dosing of the Cas9 LNPs. High efficiency editing mediated by LNP-based delivery of Cas9 to skeletal muscle permitted detailed analysis of insertion and deletion (InDel) outcomes in vivo for a set of potential therapeutic target sites, which differed substantially from InDel outcomes observed in proliferating cells in one specific instance. Overall, our findings on enhanced LNP delivery of Cas9, platform-specific immune responses, and differential editing patterns observed between in vitro and in vivo models provide valuable insights that should inform the development of gene editing therapeutics for neuromuscular diseases.
    One Sentence Summary: SORT LNPs permitted efficient Cas9-mediated repair of a pathogenic allele in skeletal muscle in a mouse model of LGMDR7.
    DOI:  https://doi.org/10.1101/2025.05.12.653518
  21. Nat Biomed Eng. 2025 Jun 05.
      Titin, the elastic protein scaffold of muscle sarcomeres, has multifunctional roles in mechanosignalling and is implicated in muscle disease. However, the consequences of disrupting titin's mechanical function in vivo remain incompletely understood. Here, by leveraging site-directed polypeptide severing as a 'mechanical knock-out' method for abolishing force transmission across titin, we show that the loss of titin tension in homozygous mechanically knocked-out muscles reduces force generation and induces severe atrophy and widespread transcriptional dysregulation. Although mechanically knocked-out myofibres persist, they shrink and undergo progressive sarcomere depletion, which correlates with the rapid upregulation of muscle-specific RING finger protein 1 (MuRF1) and with altered levels of other titin-associated atrophy regulators. The affected fibres also exhibit mitochondrial aggregation and myonuclei internalization, preceded by desmin mislocalization. Heterozygous mechanically knocked-out muscles show milder phenotypes that closely resemble titin-related human myopathy. Our findings suggest that slack titin molecules drive muscle disease, potentially through mechanisms shared with other mechanical proteins.
    DOI:  https://doi.org/10.1038/s41551-025-01403-x
  22. Lipids Health Dis. 2025 May 31. 24(1): 197
      Decline of skeletal muscle function in old age is a significant contributor to reduced quality of life, risk of injury, comorbidity and disability and even mortality. While this loss of muscle function has traditionally been attributed to sarcopenia (loss of muscle mass), it is now generally appreciated that factors other than mass play a significant role in age-related muscle weakness. One such factor gaining increased attention is the ectopic accumulation of lipids in skeletal muscle, in particular, intramyocellular lipids (IMCLs). It has been appreciated for some time that metabolic flexibility of several tissues/organs declines with age and may be related to accumulation of IMCLs in a "vicious cycle" whereby blunted metabolic flexibility promotes accumulation of IMCLs, which leases to lipotoxicity, which can then further impair metabolic flexibility. The standard interventions for addressing lipid accumulation and muscle weakness remain diet (caloric restriction) and exercise. However, long-term compliance with both interventions in older adults is low, and in the case of caloric restriction, may be inappropriate for many older adults. Accordingly, it is important, from a public health standpoint, to pursue potential pharmacological strategies for improving muscle function. Because of the success of incretin-analog drugs in addressing obesity, these medications may potentially reduce IMCLs in aging muscles and thus improve metabolic flexibility and improve muscle health. A contrasting potential pharmacological strategy for addressing these issues might be to enhance energy provision to stimulate metabolism by increasing NAD + availability, which is known to decline with age and has been linked to reduced metabolic flexibility. In this narrative review, we present information related to IMCL accumulation and metabolic flexibility in old age and how the two major lifestyle interventions, caloric restriction and exercise, can affect these factors. Finally, we discuss the potential benefits and risks of select pharmacologic interventions in older adults.
    Keywords:  Aging; Lipotoxicity; Sarcopenia
    DOI:  https://doi.org/10.1186/s12944-025-02622-6
  23. Curr Opin Neurol. 2025 Jun 06.
       PURPOSE OF REVIEW: Facioscapulohumeral muscular dystrophy (FSHD) is a progressive inherited myopathy, for which there is currently no cure available. This review focuses on the recent progress in the molecular understanding and treatments of FSHD.
    RECENT FINDINGS: Recent studies on the molecular understanding of FSHD highlight its multifaceted complexity and suggest new targets for therapeutic intervention. Preclinical models, such as the 3D skeletal muscle, provide an easier way to study molecular pathways and serve as a platform for drug screenings. New insights on training and the new international guideline contribute to optimal symptomatic treatment. In parallel, research is advancing with generic and targeted molecular therapies aiming to inhibit DUX4 activity or its downstream effects.
    SUMMARY: FSHD is caused by abnormal expression of the DUX4 gene. Our understanding of the molecular mechanisms underlying DUX4 and DUX4 target gene expression remains incomplete. However, advancements continue to clarify the roles of key proteins and genes, which might be of interest for future therapeutic therapies. Current therapies, treatments, and clinical trials for FSHD focus on molecular approaches, gene therapy, and symptom management. These developments indicate a growing focus on precision treatments and functional assessments, paving the way for improved FSHD management.
    Keywords:  ; facioscapulohumeral muscular dystrophy; molecular understanding; therapeutic approaches
    DOI:  https://doi.org/10.1097/WCO.0000000000001382
  24. Antioxid Redox Signal. 2025 Jun 05.
      Aims: Duchenne muscular dystrophy (DMD) is a severe, incurable X-linked genetic disorder caused by mutations in the DMD gene, leading to a deficiency of the muscle structural protein, dystrophin, which results in damage to skeletal and cardiac muscles. Altered expression of enzymes that generate hydrogen sulfide (H2S) has been demonstrated in dystrophic muscles, however, the exact role of this gasotransmitter in DMD remains elusive. Here, we investigated the effect of the slow-releasing H2S donor (GYY4137) on the skeletal muscles of the dystrophin-deficient mdx mice. Methods and Results: Grip strength assay and the treadmill exhaustion test showed that administering the GYY4137 donor to mdx mice improved DMD-related decline in motor functions. Additionally, the H2S donor decreased the level of muscle damage markers such as lactate dehydrogenase, creatine kinase, and osteopontin (OPN). Histological, gene, and protein analyses of the dystrophic gastrocnemius and diaphragm muscles revealed reduced inflammation and fibrosis after treatment with the H2S donor. Moreover, we showed decreased necrosis with improved muscle regeneration and angiogenesis. We demonstrated that GYY4137 upregulates the levels of phosphorylated AMPKα, as well as the cytoprotective and antioxidant heme oxygenase-1, mitochondrial superoxide dismutase, and glutamate-cysteine ligase modifier subunit (Gclm). Finally, it exerted an anti-apoptotic effect by reducing cleaved caspase-3 and caspase-3 and increasing AKT phosphorylation. Innovation and Conclusion: The administration of GYY4137 improves exercise capacity and ameliorates the markers of inflammation, fibrosis, oxidative stress, apoptosis, and necrosis in the skeletal muscles of mdx animals pointing out its possible therapeutic use in DMD pathology. Antioxid. Redox Signal. 00, 000-000.
    Keywords:  DMD; H2S; fibrosis; inflammation; mdx mice; therapeutic gasotransmitter
    DOI:  https://doi.org/10.1089/ars.2024.0702
  25. bioRxiv. 2025 May 20. pii: 2025.05.20.655139. [Epub ahead of print]
      Duchenne muscular dystrophy (DMD) is a progressive muscle wasting disease for which there is no cure. There is a critical need for additional therapeutics. Human genome-wide association studies (GWAS) have identified candidate DMD genetic modifiers that could serve as therapeutic targets. Because many GWAS-identified single nucleotide polymorphisms (SNPs) lie in noncoding, putative regulatory regions, it can be challenging to identify which gene(s) are regulated by these SNPs and how gene expression is altered to modify disease severity even with extensive in silico modeling. We analyzed expression of zebrafish orthologs of putative DMD modifiers and showed almost all are comparably expressed in wild-type and dmd mutant zebrafish at three different stages of disease. To model decreased expression of candidate modifiers, we pursued a zebrafish CRISPR-based screening approach, which we validated by testing zebrafish orthologs of two extensively studied DMD modifiers, LTBP4 and THBS1. We then tested candidates from the most recent GWAS and demonstrate that galntl6, man1a1, etaa1a;etaa1b, and adamts17 are bona fide DMD modifiers. Our findings demonstrate the utility of zebrafish for DMD genetic modifier screening and characterizing modifier function.
    DOI:  https://doi.org/10.1101/2025.05.20.655139
  26. Am J Pathol. 2025 Jun 02. pii: S0002-9440(25)00185-3. [Epub ahead of print]
      Presynaptic terminals of neuromuscular junctions (NMJs) are sensitive to glutamate, which contributes to NMJ plasticity and synaptic neurotransmission. However, the effect of glutamate on neurotransmission and its pharmacological modulation in muscle pathologies are understudied. Here, we investigated the efficacy of pharmacologic blockade of glutamate dehydrogenase 1 (GLUD1) in mdx mice, a model of Duchenne muscular dystrophy (DMD). The GLUD1 inhibitor R162 mitigated the malfunctioning of NMJs by enhancing glutamate release from muscle fibers and increasing its availability in the muscle interstitium. Glutamate binding to its N-methyl-D-aspartate receptor (NMDAR) on the presynaptic bottom of NMJs resulted in the increased release of acetylcholine and functional recovery of the action potential and muscle contraction, ultimately improving muscle performance. Finally, the GLUD1 inhibitor did not affect the homeostatic control of NMJs and the behavior of either healthy or dystrophic mice. This study suggests a promising and feasible therapeutic approach based on muscle glutamate exploitation to treat DMD, an unmet need in the clinic so far.
    Keywords:  Glutamate dehydrogenase 1 (GLUD1); Glutamate metabolism; Macrophages; Muscular dystrophy; Neuromuscular junctions
    DOI:  https://doi.org/10.1016/j.ajpath.2025.05.003