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Biomolecules
Special Issues
Muscular Dystrophy: From Molecular Basis to Therapies
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Muscular Dystrophy: From Molecular Basis to Therapies

A special issue of Biomolecules (ISSN 2218-273X). This special issue belongs to the section "Molecular Biology".

Deadline for manuscript submissions: closed (15 October 2024) | Viewed by 18814

Special Issue Editors

Dr. Francesca Sciandra

E-Mail Website
Guest Editor
Istituto di Scienze e Tecnologie Chimiche “Giulio Natta”—SCITEC Sede di Roma, Largo F. Vito 1, 00168 Roma, Italy
Interests: dystroglycan and dystroglycanopathies; extracellular matrix; muscle regeneration; small molecules therapy
Special Issues, Collections and Topics in MDPI journals
Dr. Kinga I. Gawlik

E-Mail Website
Guest Editor
Institutionen för Experimentell Medicinsk Vetenskap, Lund, Sweden
Interests: laminins; congenital muscular dystrophy; inflammation; gene therapy; genetic modifiers; mouse models; preclinical studies
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Muscular dystrophies are a group of genetic diseases primarily characterized by progressive muscle weakness and degeneration of the skeletal muscles. Loss of muscle function has detrimental consequences for patients’ well-being, and there is currently no existing treatment. Muscular dystrophies arise from mutations in genes that encode for proteins possessing a wide range of biological functions in skeletal muscle. Many of these proteins provide structural stability to the sarcolemma and the nuclear envelope, whereas others are involved in muscle contraction, transcription regulation, protein post-translational modifications, protein turnover and intracellular trafficking. Remarkable progress has been made in recent decades toward the development of targeted therapeutic interventions for muscular dystrophies. Alongside the use of antisense oligonucleotides to induce exon skipping and reduce or silence the expression of the mutated gene, gene editing based on the CRISPR-CAS9 technique is also undergoing testing. Other therapeutic approaches for muscular dystrophies include gene therapy, stem cell delivery, the use of small molecules and drug repurposing.  This Special Issue aims to provide a collection of original research and review articles, offering an open access platform through which to address the molecular players involved in muscular dystrophies and discuss the current progress of therapeutic approaches.

Dr. Francesca Sciandra
Dr. Kinga I. Gawlik
Guest Editors

Manuscript Submission Information

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Keywords

  • muscular dystrophies
  • muscle regeneration
  • extracellular matrix
  • satellite cells
  • therapeutic approaches
  • animal models
  • clinical trials

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Related Special Issue

Published Papers (5 papers)

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Research

Jump to: Review

20 pages, 16729 KiB  
Article
Mitochondrial Transplantation Therapy Ameliorates Muscular Dystrophy in mdx Mouse Model
by Mikhail V. Dubinin, Irina B. Mikheeva, Anastasia E. Stepanova, Anastasia D. Igoshkina, Alena A. Cherepanova, Alena A. Semenova, Vyacheslav A. Sharapov, Igor I. Kireev and Konstantin N. Belosludtsev
Biomolecules 2024, 14(3), 316; https://doi.org/10.3390/biom14030316 - 7 Mar 2024
Cited by 6 | Viewed by 3264
Abstract
Duchenne muscular dystrophy is caused by loss of the dystrophin protein. This pathology is accompanied by mitochondrial dysfunction contributing to muscle fiber instability. It is known that mitochondria-targeted in vivo therapy mitigates pathology and improves the quality of life of model animals. In [...] Read more.
Duchenne muscular dystrophy is caused by loss of the dystrophin protein. This pathology is accompanied by mitochondrial dysfunction contributing to muscle fiber instability. It is known that mitochondria-targeted in vivo therapy mitigates pathology and improves the quality of life of model animals. In the present work, we applied mitochondrial transplantation therapy (MTT) to correct the pathology in dystrophin-deficient mdx mice. Intramuscular injections of allogeneic mitochondria obtained from healthy animals into the hind limbs of mdx mice alleviated skeletal muscle injury, reduced calcium deposits in muscles and serum creatine kinase levels, and improved the grip strength of the hind limbs and motor activity of recipient mdx mice. We noted normalization of the mitochondrial ultrastructure and sarcoplasmic reticulum/mitochondria interactions in mdx muscles. At the same time, we revealed a decrease in the efficiency of oxidative phosphorylation in the skeletal muscle mitochondria of recipient mdx mice accompanied by a reduction in lipid peroxidation products (MDA products) and reduced calcium overloading. We found no effect of MTT on the expression of mitochondrial signature genes (Drp1, Mfn2, Ppargc1a, Pink1, Parkin) and on the level of mtDNA. Our results show that systemic MTT mitigates the development of destructive processes in the quadriceps muscle of mdx mice. Full article
(This article belongs to the Special Issue Muscular Dystrophy: From Molecular Basis to Therapies)
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22 pages, 5322 KiB  
Article
Proteome Profiling of the Dystrophic mdx Mice Diaphragm
by Olga Mucha, Małgorzata Myszka, Paulina Podkalicka, Bianka Świderska, Agata Malinowska, Józef Dulak and Agnieszka Łoboda
Biomolecules 2023, 13(11), 1648; https://doi.org/10.3390/biom13111648 - 13 Nov 2023
Cited by 2 | Viewed by 1932
Abstract
Mdx mice with a spontaneous mutation in exon 23 of the Dmd gene represent the most common model to investigate the pathophysiology of Duchenne muscular dystrophy (DMD). The disease, caused by the lack of functional dystrophin, is characterized by irreversible impairment of muscle [...] Read more.
Mdx mice with a spontaneous mutation in exon 23 of the Dmd gene represent the most common model to investigate the pathophysiology of Duchenne muscular dystrophy (DMD). The disease, caused by the lack of functional dystrophin, is characterized by irreversible impairment of muscle functions, with the diaphragm affected earlier and more severely than other skeletal muscles. We applied a label-free (LF) method and the more thorough tandem mass tag (TMT)-based method to analyze differentially expressed proteins in the diaphragm of 6-week-old mdx mice. The comparison of both methods revealed 88 commonly changed proteins. A more in-depth analysis of the TMT-based method showed 953 significantly changed proteins, with 867 increased and 86 decreased in dystrophic animals (q-value < 0.05, fold-change threshold: 1.5). Consequently, several dysregulated processes were demonstrated, including the immune response, fibrosis, translation, and programmed cell death. Interestingly, in the dystrophic diaphragm, we found a significant decrease in the expression of enzymes generating hydrogen sulfide (H2S), suggesting that alterations in the metabolism of this gaseous mediator could modulate DMD progression, which could be a potential target for pharmacological intervention. Full article
(This article belongs to the Special Issue Muscular Dystrophy: From Molecular Basis to Therapies)
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Review

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33 pages, 2928 KiB  
Review
The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments
by Saeed Anwar and Toshifumi Yokota
Biomolecules 2024, 14(3), 256; https://doi.org/10.3390/biom14030256 - 21 Feb 2024
Cited by 1 | Viewed by 4881
Abstract
Dysferlinopathies refer to a spectrum of muscular dystrophies that cause progressive muscle weakness and degeneration. They are caused by mutations in the DYSF gene, which encodes the dysferlin protein that is crucial for repairing muscle membranes. This review delves into the clinical spectra [...] Read more.
Dysferlinopathies refer to a spectrum of muscular dystrophies that cause progressive muscle weakness and degeneration. They are caused by mutations in the DYSF gene, which encodes the dysferlin protein that is crucial for repairing muscle membranes. This review delves into the clinical spectra of dysferlinopathies, their molecular mechanisms, and the spectrum of emerging therapeutic strategies. We examine the phenotypic heterogeneity of dysferlinopathies, highlighting the incomplete understanding of genotype-phenotype correlations and discussing the implications of various DYSF mutations. In addition, we explore the potential of symptomatic, pharmacological, molecular, and genetic therapies in mitigating the disease’s progression. We also consider the roles of diet and metabolism in managing dysferlinopathies, as well as the impact of clinical trials on treatment paradigms. Furthermore, we examine the utility of animal models in elucidating disease mechanisms. By culminating the complexities inherent in dysferlinopathies, this write up emphasizes the need for multidisciplinary approaches, precision medicine, and extensive collaboration in research and clinical trial design to advance our understanding and treatment of these challenging disorders. Full article
(This article belongs to the Special Issue Muscular Dystrophy: From Molecular Basis to Therapies)
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31 pages, 1687 KiB  
Review
Pharmacotherapeutic Approaches to Treatment of Muscular Dystrophies
by Alan Rawls, Bridget K. Diviak, Cameron I. Smith, Grant W. Severson, Sofia A. Acosta and Jeanne Wilson-Rawls
Biomolecules 2023, 13(10), 1536; https://doi.org/10.3390/biom13101536 - 17 Oct 2023
Cited by 6 | Viewed by 4272
Abstract
Muscular dystrophies are a heterogeneous group of genetic muscle-wasting disorders that are subdivided based on the region of the body impacted by muscle weakness as well as the functional activity of the underlying genetic mutations. A common feature of the pathophysiology of muscular [...] Read more.
Muscular dystrophies are a heterogeneous group of genetic muscle-wasting disorders that are subdivided based on the region of the body impacted by muscle weakness as well as the functional activity of the underlying genetic mutations. A common feature of the pathophysiology of muscular dystrophies is chronic inflammation associated with the replacement of muscle mass with fibrotic scarring. With the progression of these disorders, many patients suffer cardiomyopathies with fibrosis of the cardiac tissue. Anti-inflammatory glucocorticoids represent the standard of care for Duchenne muscular dystrophy, the most common muscular dystrophy worldwide; however, long-term exposure to glucocorticoids results in highly adverse side effects, limiting their use. Thus, it is important to develop new pharmacotherapeutic approaches to limit inflammation and fibrosis to reduce muscle damage and promote repair. Here, we examine the pathophysiology, genetic background, and emerging therapeutic strategies for muscular dystrophies. Full article
(This article belongs to the Special Issue Muscular Dystrophy: From Molecular Basis to Therapies)
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35 pages, 9137 KiB  
Review
Extracellular Matrix Proteomics: The mdx-4cv Mouse Diaphragm as a Surrogate for Studying Myofibrosis in Dystrophinopathy
by Paul Dowling, Stephen Gargan, Margit Zweyer, Dieter Swandulla and Kay Ohlendieck
Biomolecules 2023, 13(7), 1108; https://doi.org/10.3390/biom13071108 - 12 Jul 2023
Cited by 7 | Viewed by 3248
Abstract
The progressive degeneration of the skeletal musculature in Duchenne muscular dystrophy is accompanied by reactive myofibrosis, fat substitution, and chronic inflammation. Fibrotic changes and reduced tissue elasticity correlate with the loss in motor function in this X-chromosomal disorder. Thus, although dystrophinopathies are due [...] Read more.
The progressive degeneration of the skeletal musculature in Duchenne muscular dystrophy is accompanied by reactive myofibrosis, fat substitution, and chronic inflammation. Fibrotic changes and reduced tissue elasticity correlate with the loss in motor function in this X-chromosomal disorder. Thus, although dystrophinopathies are due to primary abnormalities in the DMD gene causing the almost-complete absence of the cytoskeletal Dp427-M isoform of dystrophin in voluntary muscles, the excessive accumulation of extracellular matrix proteins presents a key histopathological hallmark of muscular dystrophy. Animal model research has been instrumental in the characterization of dystrophic muscles and has contributed to a better understanding of the complex pathogenesis of dystrophinopathies, the discovery of new disease biomarkers, and the testing of novel therapeutic strategies. In this article, we review how mass-spectrometry-based proteomics can be used to study changes in key components of the endomysium, perimysium, and epimysium, such as collagens, proteoglycans, matricellular proteins, and adhesion receptors. The mdx-4cv mouse diaphragm displays severe myofibrosis, making it an ideal model system for large-scale surveys of systematic alterations in the matrisome of dystrophic fibers. Novel biomarkers of myofibrosis can now be tested for their appropriateness in the preclinical and clinical setting as diagnostic, pharmacodynamic, prognostic, and/or therapeutic monitoring indicators. Full article
(This article belongs to the Special Issue Muscular Dystrophy: From Molecular Basis to Therapies)
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