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Molecular Insights into Muscular Dystrophy
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Molecular Insights into Muscular Dystrophy

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: closed (20 December 2024) | Viewed by 9132

Special Issue Editor

Dr. Marco G. Schiavone

E-Mail Website
Guest Editor
Department of Molecular and Translational Medicine, Zebrafish Facility, University of Brescia, 25123 Brescia, Italy
Interests: zebrafish; Ca2+ signalling; molecular pathways; mitochondria; muscular dystrophy; CRISPR/Cas9; transgenic reporter lines; RNAseq; biosensors; generation of zebrafish models for human disease; drug screening and development; OCR measurement
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue has been created with the aim of improving the knowledge regarding less-described mechanisms involved both in the pathogenesis of different types of muscular dystrophy and in the mitochondrial metabolism. Previous studies with in vitro and in vivo models of muscular dystrophy showed that mitochondria play a major role in muscle repair during contraction. Conversely, mitochondrial dysfunction due to calcium dysregulation and oxidative stress plays a major role in muscle fiber death during disease pathogenesis. Moreover, dissecting the mechanisms that underlie the pathogenesis of muscular dystrophy and clarifying the role of mitochondrial metabolism could increase the possibility of developing new therapies for this group of disorders. Zebrafish are an important tool in the study of muscular dystrophy due to their highly evolutionarily conserved genes and mechanisms involved in both muscle differentiation and muscle contraction. Their mitochondrial metabolism and physiology is also highly conserved. This Special Issue aims to develop the study of muscular dystrophy and mitochondrial metabolism using zebrafish as an animal model. We also welcome studies developing new methods and tools to (i) generate new zebrafish models of muscular dystrophy, (ii) investigate these models and (iii) perform new high-throughput drug screening that will open up new avenues for the development of therapeutics.

Dr. Marco G. Schiavone
Guest Editor

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Keywords

  • zebrafish
  • muscular dystrophy
  • signalling pathways
  • disease pathogenesis
  • drug screening
  • mitochondria
  • metabolism
  • mitochondrial respiration
  • oxidative stress
  • cell apoptosis
  • muscle differentiation
  • satellite cells

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Published Papers (5 papers)

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Research

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20 pages, 11188 KiB  
Article
Changes to the Autophagy-Related Muscle Proteome Following Short-Term Treatment with Ectoine in the Duchenne Muscular Dystrophy Mouse Model mdx
by Eulàlia Gómez Armengol, Caroline Merckx, Hanne De Sutter, Jan L. De Bleecker and Boel De Paepe
Int. J. Mol. Sci. 2025, 26(2), 439; https://doi.org/10.3390/ijms26020439 - 7 Jan 2025
Viewed by 634
Abstract
The most severe form of muscular dystrophy (MD), known as Duchenne MD (DMD), remains an incurable disease, hence the ongoing efforts to develop supportive therapies. The dysregulation of autophagy, a degradative yet protective mechanism activated when tissues are under severe and prolonged stress, [...] Read more.
The most severe form of muscular dystrophy (MD), known as Duchenne MD (DMD), remains an incurable disease, hence the ongoing efforts to develop supportive therapies. The dysregulation of autophagy, a degradative yet protective mechanism activated when tissues are under severe and prolonged stress, is critically involved in DMD. Treatments that harness autophagic capacities therefore represent a promising therapeutic approach. Osmolytes are protective organic molecules that regulate osmotic pressure and cellular homeostasis and may support tissue-repairing autophagy. We therefore explored the effects of the osmolyte ectoine in the standard mouse model of DMD, the mdx, focusing on the autophagy-related proteome. Mice were treated with ectoine in their drinking water (150 mg/kg) or through daily intraperitoneal injection (177 mg/kg) until they were 5.5 weeks old. Hind limb muscles were dissected, and samples were prepared for Western blotting for protein quantification and for immunofluorescence for an evaluation of tissue distribution. We report changes in the protein levels of autophagy-related 5 (ATG5), Ser366-phosphorylated sequestosome 1 (SQSTM1), heat shock protein 70 (HSP70), activated microtubule-associated protein 1A/1B-light chain 3 (LC3 II) and mammalian target of rapamycin (mTOR). Most importantly, ectoine significantly improved the balance between LC3 II and SQSTM1 levels in mdx gastrocnemius muscle, and LC3 II immunostaining was most pronounced in muscle fibers of the tibialis anterior from treated mdx. These findings lend support for the further investigation of ectoine as a potential therapeutic intervention for DMD. Full article
(This article belongs to the Special Issue Molecular Insights into Muscular Dystrophy)
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23 pages, 8478 KiB  
Article
The DUX4–HIF1α Axis in Murine and Human Muscle Cells: A Link More Complex Than Expected
by Thuy-Hang Nguyen, Maelle Limpens, Sihame Bouhmidi, Lise Paprzycki, Alexandre Legrand, Anne-Emilie Declèves, Philipp Heher, Alexandra Belayew, Christopher R. S. Banerji, Peter S. Zammit and Alexandra Tassin
Int. J. Mol. Sci. 2024, 25(6), 3327; https://doi.org/10.3390/ijms25063327 - 15 Mar 2024
Cited by 1 | Viewed by 1504
Abstract
FacioScapuloHumeral muscular Dystrophy (FSHD) is one of the most prevalent inherited muscle disorders and is linked to the inappropriate expression of the DUX4 transcription factor in skeletal muscles. The deregulated molecular network causing FSHD muscle dysfunction and pathology is not well understood. It [...] Read more.
FacioScapuloHumeral muscular Dystrophy (FSHD) is one of the most prevalent inherited muscle disorders and is linked to the inappropriate expression of the DUX4 transcription factor in skeletal muscles. The deregulated molecular network causing FSHD muscle dysfunction and pathology is not well understood. It has been shown that the hypoxia response factor HIF1α is critically disturbed in FSHD and has a major role in DUX4-induced cell death. In this study, we further explored the relationship between DUX4 and HIF1α. We found that the DUX4 and HIF1α link differed according to the stage of myogenic differentiation and was conserved between human and mouse muscle. Furthermore, we found that HIF1α knockdown in a mouse model of DUX4 local expression exacerbated DUX4-mediated muscle fibrosis. Our data indicate that the suggested role of HIF1α in DUX4 toxicity is complex and that targeting HIF1α might be challenging in the context of FSHD therapeutic approaches. Full article
(This article belongs to the Special Issue Molecular Insights into Muscular Dystrophy)
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Review

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21 pages, 2289 KiB  
Review
The Gut Microbiota Involvement in the Panorama of Muscular Dystrophy Pathogenesis
by Cristina Russo, Sofia Surdo, Maria Stella Valle and Lucia Malaguarnera
Int. J. Mol. Sci. 2024, 25(20), 11310; https://doi.org/10.3390/ijms252011310 - 21 Oct 2024
Viewed by 1982
Abstract
Muscular dystrophies (MDs) are genetically heterogeneous diseases characterized by primary skeletal muscle atrophy. The collapse of muscle structure and irreversible degeneration of tissues promote the occurrence of comorbidities, including cardiomyopathy and respiratory failure. Mitochondrial dysfunction leads to inflammation, fibrosis, and adipogenic cellular infiltrates [...] Read more.
Muscular dystrophies (MDs) are genetically heterogeneous diseases characterized by primary skeletal muscle atrophy. The collapse of muscle structure and irreversible degeneration of tissues promote the occurrence of comorbidities, including cardiomyopathy and respiratory failure. Mitochondrial dysfunction leads to inflammation, fibrosis, and adipogenic cellular infiltrates that exacerbate the symptomatology of MD patients. Gastrointestinal disorders and metabolic anomalies are common in MD patients and may be determined by the interaction between the intestine and its microbiota. Therefore, the gut–muscle axis is one of the actors involved in the spread of inflammatory signals to all muscles. In this review, we aim to examine in depth how intestinal dysbiosis can modulate the metabolic state, the immune response, and mitochondrial biogenesis in the course and progression of the most investigated MDs such as Duchenne Muscular Dystrophy (DMD) and Myotonic Dystrophy (MD1), to better identify gut microbiota metabolites working as therapeutic adjuvants to improve symptoms of MD. Full article
(This article belongs to the Special Issue Molecular Insights into Muscular Dystrophy)
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22 pages, 2061 KiB  
Review
Macrophages in the Context of Muscle Regeneration and Duchenne Muscular Dystrophy
by Francisco Hernandez-Torres, Lidia Matias-Valiente, Virginia Alzas-Gomez and Amelia Eva Aranega
Int. J. Mol. Sci. 2024, 25(19), 10393; https://doi.org/10.3390/ijms251910393 - 27 Sep 2024
Viewed by 2512
Abstract
Macrophages are essential to muscle regeneration, as they regulate inflammation, carry out phagocytosis, and facilitate tissue repair. These cells exhibit phenotypic switching from pro-inflammatory (M1) to anti-inflammatory (M2) states during muscle repair, influencing myoblast proliferation, differentiation, and myofiber formation. In Duchenne Muscular Dystrophy [...] Read more.
Macrophages are essential to muscle regeneration, as they regulate inflammation, carry out phagocytosis, and facilitate tissue repair. These cells exhibit phenotypic switching from pro-inflammatory (M1) to anti-inflammatory (M2) states during muscle repair, influencing myoblast proliferation, differentiation, and myofiber formation. In Duchenne Muscular Dystrophy (DMD), asynchronous muscle injuries disrupt the normal temporal stages of regeneration, leading to fibrosis and failed regeneration. Altered macrophage activity is associated with DMD progression and physiopathology. Gaining insight into the intricate relationship between macrophages and muscle cells is crucial for creating effective therapies aimed at treating this muscle disorder. This review explores the dynamic functions of macrophages in muscle regeneration and their implications in DMD. Full article
(This article belongs to the Special Issue Molecular Insights into Muscular Dystrophy)
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14 pages, 1785 KiB  
Review
Caveolin and NOS in the Development of Muscular Dystrophy
by Moeka Nakashima, Naoko Suga, Sayuri Yoshikawa and Satoru Matsuda
Int. J. Mol. Sci. 2024, 25(16), 8771; https://doi.org/10.3390/ijms25168771 - 12 Aug 2024
Cited by 1 | Viewed by 1678
Abstract
Caveolin is a structural protein within caveolae that may be involved in transmembrane molecular transport and/or various intercellular interactions within cells. Specific mutations of caveolin-3 in muscle fibers are well known to cause limb–girdle muscular dystrophy. Altered expression of caveolin-3 has also been [...] Read more.
Caveolin is a structural protein within caveolae that may be involved in transmembrane molecular transport and/or various intercellular interactions within cells. Specific mutations of caveolin-3 in muscle fibers are well known to cause limb–girdle muscular dystrophy. Altered expression of caveolin-3 has also been detected in Duchenne muscular dystrophy, which may be a part of the pathological process leading to muscle weakness. Interestingly, it has been shown that the renovation of nitric oxide synthase (NOS) in sarcolemma with muscular dystrophy could improve muscle health, suggesting that NOS may be involved in the pathology of muscular dystrophy. Here, we summarize the notable function of caveolin and/or NOS in skeletal muscle fibers and discuss their involvement in the pathology as well as possible tactics for the innovative treatment of muscular dystrophies. Full article
(This article belongs to the Special Issue Molecular Insights into Muscular Dystrophy)
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