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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: 25 June 2024 | Viewed by 846

Special Issue Editor


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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
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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

Manuscript Submission Information

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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

Published Papers (1 paper)

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Research

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
Viewed by 578
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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