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Molecular and Cellular Mechanisms and the Pathophysiology of Skeletal Muscle...
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Molecular and Cellular Mechanisms and the Pathophysiology of Skeletal Muscle Diseases

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 30 July 2025 | Viewed by 4711

Special Issue Editor

Dr. Gaetano Vattemi

E-Mail Website
Guest Editor
Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Piazzale L.A. Scuro 10, 37134 Verona, Italy
Interests: idiopathic inflammatory myopathies; sporadic inclusion body myositis (sIBM); protein aggregates myopathies; nuclear envelopathies; amyotrophic lateral sclerosis
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Skeletal muscle is one of the most extended organs in the human body and is characterized by an elaborate architecture of multinucleated contractile myofibers within a complex microenvironment that includes endothelial and immune cells, motor neurons, perivascular and connective tissue, and muscle stem cells.

Several disorders affect the structure and/or function of skeletal muscle and can be classified into two broad categories: genetically determined and acquired myopathies. Many of these diseases are still awaiting effective treatments because their pathological mechanisms are not well understood. Recent advances in biological knowledge and technologies, such as stem cell protocols and high-throughput platforms, are making the study of molecular and cellular dynamics in skeletal muscle possible at unprecedented depths.

This Special Issue will update the latest findings on the biomolecular and cellular processes underlying primary muscle diseases, with the aim of improving understanding of their pathophysiological mechanisms and finding potential drug targets. Original research articles, reviews, and short communications related to this topic are all welcome.

Dr. Gaetano Vattemi
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

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Keywords

  • acquired muscle diseases
  • inherited muscle diseases
  • pathogenesis
  • molecular and cellular mechanisms
  • in vitro and in vivo models
  • treatment strategies

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Published Papers (4 papers)

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Research

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17 pages, 3401 KiB  
Article
Induced Types 2 and 3 Deiodinase in Non-Thyroidal Illness Syndrome and the Implications to Critical Illness-Induced Myopathy—A Prospective Cohort Study
by André Cardoso Braun, Thaliane Carvalho Oliveira, Ludmilla C. D. Thomazini, Gustavo Argenti, Bruno Jaskulski Kotzian, Valentina Machado, João Henrique M. Conte, Carolina Zanfir, Amanda C. A. Souto, Bruna Ulian, Josi Vidart and Simone Magagnin Wajner
Int. J. Mol. Sci. 2025, 26(6), 2410; https://doi.org/10.3390/ijms26062410 - 7 Mar 2025
Viewed by 446
Abstract
Loss of muscle mass and strength is a common condition associated with adverse outcomes in critically ill patients. Here, we determined the correlation between non-thyroidal illness (NTIS) and molecular alterations in the muscle of critically ill individuals. We evaluated deiodinase expression, intramuscular triiodothyronine [...] Read more.
Loss of muscle mass and strength is a common condition associated with adverse outcomes in critically ill patients. Here, we determined the correlation between non-thyroidal illness (NTIS) and molecular alterations in the muscle of critically ill individuals. We evaluated deiodinase expression, intramuscular triiodothyronine (T3) levels, and mitochondria and sarcoplasmic reticulum components. The cellular colocalization of the enzymes and its influence on myocytes and genes regulated by T3 were shown, including those of mitochondria. A prospective cohort of 96 patients. Blood and muscular samples were collected on admission to the intensive care unit (ICU), as well as clinical data and ultrasonographic measurements. Patients with NTIS showed increased oxidative stress markers associated with critical illness in muscle biopsy, such as carbonyl content and low sulfhydryl and GSH. The distribution pattern of deiodinases in muscle and its biochemical properties showed significant pathophysiological linkage between NTIS and muscle loss, as type 3-deiodinase (D3) was highly expressed in stem cells, preventing their differentiation in mature myocytes. Despite the high type 2-deiodinase (D2) expression in muscle tissue in the acute phase of critical illness, T3 was unmeasurable in the samples. In this scenario, we also demonstrated impaired expression of glucose transporters GLUT4, IRS1, and 2, which are involved in muscle illness. Here, we provide evidence that altered thyroid hormone metabolism contributes to stem cell dysfunction and further explain the mechanisms underlying critical illness-induced myopathy. Full article
(This article belongs to the Special Issue Molecular and Cellular Mechanisms and the Pathophysiology of Skeletal Muscle Diseases)
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22 pages, 7966 KiB  
Article
P38α MAPK Coordinates Mitochondrial Adaptation to Caloric Surplus in Skeletal Muscle
by Liron Waingerten-Kedem, Sharon Aviram, Achinoam Blau, Tony Hayek and Eyal Bengal
Int. J. Mol. Sci. 2024, 25(14), 7789; https://doi.org/10.3390/ijms25147789 - 16 Jul 2024
Viewed by 1487
Abstract
Excessive calorie intake leads to mitochondrial overload and triggers metabolic inflexibility and insulin resistance. In this study, we examined how attenuated p38α activity affects glucose and fat metabolism in the skeletal muscles of mice on a high-fat diet (HFD). Mice exhibiting diminished p38α [...] Read more.
Excessive calorie intake leads to mitochondrial overload and triggers metabolic inflexibility and insulin resistance. In this study, we examined how attenuated p38α activity affects glucose and fat metabolism in the skeletal muscles of mice on a high-fat diet (HFD). Mice exhibiting diminished p38α activity (referred to as p38αAF) gained more weight and displayed elevated serum insulin levels, as well as a compromised response in the insulin tolerance test, compared to the control mice. Additionally, their skeletal muscle tissue manifested impaired insulin signaling, leading to resistance in insulin-mediated glucose uptake. Examination of muscle metabolites in p38αAF mice revealed lower levels of glycolytic intermediates and decreased levels of acyl-carnitine metabolites, suggesting reduced glycolysis and β-oxidation compared to the controls. Additionally, muscles of p38αAF mice exhibited severe abnormalities in their mitochondria. Analysis of myotubes derived from p38αAF mice revealed reduced mitochondrial respiratory capacity relative to the myotubes of the control mice. Furthermore, these myotubes showed decreased expression of Acetyl CoA Carboxylase 2 (ACC2), leading to increased fatty acid oxidation and diminished inhibitory phosphorylation of pyruvate dehydrogenase (PDH), which resulted in elevated mitochondrial pyruvate oxidation. The expected consequence of reduced mitochondrial respiratory function and uncontrolled nutrient oxidation observed in p38αAF myotubes mitochondrial overload and metabolic inflexibility. This scenario explains the increased likelihood of insulin resistance development in the muscles of p38αAF mice compared to the control mice on a high-fat diet. In summary, within skeletal muscles, p38α assumes a crucial role in orchestrating the mitochondrial adaptation to caloric surplus by promoting mitochondrial biogenesis and regulating the selective oxidation of nutrients, thereby preventing mitochondrial overload, metabolic inflexibility, and insulin resistance. Full article
(This article belongs to the Special Issue Molecular and Cellular Mechanisms and the Pathophysiology of Skeletal Muscle Diseases)
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Review

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25 pages, 700 KiB  
Review
The Functions and Regulatory Mechanisms of Histone Modifications in Skeletal Muscle Development and Disease
by Zining Huang, Linqing Hu, Zhiwei Liu and Shanshan Wang
Int. J. Mol. Sci. 2025, 26(8), 3644; https://doi.org/10.3390/ijms26083644 - 12 Apr 2025
Viewed by 506
Abstract
Skeletal muscle development is a complex biological process regulated by many factors, such as transcription factors, signaling pathways, and epigenetic modifications. Histone modifications are important epigenetic regulatory factors involved in various biological processes, including skeletal muscle development, and play a crucial role in [...] Read more.
Skeletal muscle development is a complex biological process regulated by many factors, such as transcription factors, signaling pathways, and epigenetic modifications. Histone modifications are important epigenetic regulatory factors involved in various biological processes, including skeletal muscle development, and play a crucial role in the pathogenesis of skeletal muscle diseases. Histone modification regulators affect the expression of many genes involved in skeletal muscle development and disease by adding or removing certain chemical modifications. In this review, we comprehensively summarize the functions and regulatory activities of the histone modification regulators involved in skeletal muscle development, regeneration, and disease. Full article
(This article belongs to the Special Issue Molecular and Cellular Mechanisms and the Pathophysiology of Skeletal Muscle Diseases)
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15 pages, 1306 KiB  
Review
Highlights of Precision Medicine, Genetics, Epigenetics and Artificial Intelligence in Pompe Disease
by Marta Moschetti, Marika Venezia, Miriam Giacomarra, Emanuela Maria Marsana, Carmela Zizzo, Giulia Duro, Annalisa D’Errico, Paolo Colomba and Giovanni Duro
Int. J. Mol. Sci. 2025, 26(2), 757; https://doi.org/10.3390/ijms26020757 - 17 Jan 2025
Viewed by 1597
Abstract
Pompe disease is a neuromuscular disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA), which leads to lysosomal glycogen accumulation and progressive development of muscle weakness. Two distinct isoforms have been identified. In the infantile form, the weakness is [...] Read more.
Pompe disease is a neuromuscular disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA), which leads to lysosomal glycogen accumulation and progressive development of muscle weakness. Two distinct isoforms have been identified. In the infantile form, the weakness is often severe and leads to motor difficulties from the first few months of life. In adult patients, the progression is slower but can still lead to significant loss of mobility. The current inherent difficulties of the disease lie in both early diagnosis and the use of biomarkers. Given that this is a multifactorial disease, a number of components may exert an influence on the disease process; from the degree of pre-ERT (enzyme replacement therapy) muscle damage to the damaged autophagic system and the different pathways involved. What methodology should be employed to study the complex characteristics of Pompe disease? Our approach relies on the application of genetic and epigenetic knowledge, with a progression from proteomics to transcriptomics. It is also becoming increasingly evident that artificial intelligence is a significant area of interest. The objective of this study is to conduct a comprehensive review of the existing literature on the known data and complications associated with the disease in patients with disorders attributed to Pompe disease. Full article
(This article belongs to the Special Issue Molecular and Cellular Mechanisms and the Pathophysiology of Skeletal Muscle Diseases)
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