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Dr. Jeffrey Glennon

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Guest Editor

Mass Spectrometry Core Facility, UCD Conway Institute of Biomolecular & Biomedical Research, University College Dublin, Dublin, Ireland
Interests: insulin; GABA; behavior; anterior cingulate cortex; molecular imaging; MRI; RNA; myotonic dystrophy; obsessive compulsive disorder; autism
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Special Issue Information

Dear Colleagues,

Muscular dystrophies (MDs) are diseases predominantly affecting the skeletal muscle and include inherited muscle pathologies such as Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, FacioScapulohumeral Muscular Dystrophy, Limb-Girdle Muscular Dystrophy, Myotonic Dystrophy and skeletal muscle laminopathies. MDs have been associated with an increasing number of gene mutations involving structural proteins, signaling molecules and/or leading to aberrant mRNA processing or altered post-translational modifications. In the last few decades, many achievements have been made in clarifying the pathogenesis of these diseases and should improve the development of adapted specific therapies. This issue will give recent insights into cellular and molecular mechanisms that are primarily and secondarily disrupted in MDs, focusing on muscle degeneration and regeneration, defects in muscle growth and the repair of skeletal muscle. Original manuscripts and reviews dealing with specific aspects of molecular mechanisms and pathophysiology of MDs are very welcome from outstanding experts in the topic.

Dr. Jeffrey Glennon
Guest Editor

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Related Special Issue

Published Papers (1 paper)

Research

14 pages, 2034 KiB

Open AccessArticle

Decoding the Gene Regulatory Network of Muscle Stem Cells in Mouse Duchenne Muscular Dystrophy: Revelations from Single-Nuclei RNA Sequencing Analysis

by Yan Shen, Il-Man Kim and Yaoliang Tang

Int. J. Mol. Sci. 2023, 24(15), 12463; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms241512463 - 05 Aug 2023

Viewed by 1560

Abstract

The gene dystrophin is responsible for Duchenne muscular dystrophy (DMD), a grave X-linked recessive ailment that results in respiratory and cardiac failure. As the expression of dystrophin in muscle stem cells (MuSCs) is a topic of debate, there exists a limited understanding of its influence on the gene network of MuSCs. This study was conducted with the objective of investigating the effects of dystrophin on the regulatory network of genes in MuSCs. To comprehend the function of dystrophin in MuSCs from DMD, this investigation employed single-nuclei RNA sequencing (snRNA-seq) to appraise the transcriptomic profile of MuSCs obtained from the skeletal muscles of dystrophin mutant mice (DMD^mut) and wild-type control mice. The study revealed that the dystrophin mutation caused the disruption of several long non-coding RNAs (lncRNAs), leading to the inhibition of MEG3 and NEAT1 and the upregulation of GM48099, GM19951, and GM15564. The Gene Ontology (GO) enrichment analysis of biological processes (BP) indicated that the dystrophin mutation activated the cell adhesion pathway in MuSCs, inhibited the circulatory system process, and affected the regulation of binding. The study also revealed that the metabolic pathway activity of MuSCs was altered. The metabolic activities of oxidative phosphorylation (OXPHOS) and glycolysis were elevated in MuSCs from DMD^mut. In summary, this research offers novel insights into the disrupted gene regulatory program in MuSCs due to dystrophin mutation at the single-cell level. Full article

(This article belongs to the Special Issue Cell Signaling and Omics in Muscular Dystrophies 2.0)

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