ijms-logo

Journal Browser

Journal Browser

Special Issue "Molecular Mechanisms of Muscular Dystrophy"

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Biology".

Deadline for manuscript submissions: 31 October 2021.

Special Issue Editor

Dr. Jeffrey Glennon
E-Mail Website
Guest Editor
Conway Institute for Biomolecular and Biomedical Research, School of Medicine, University College Dublin, Belfield, Dublin 4, Ireland
Interests: insulin; GABA; behavior; anterior cingulate cortex; molecular imaging; MRI; RNA; myotonic dystrophy; obsessive compulsive disorder; autism

Special Issue Information

Dear Colleagues,

Muscular dystrophies constitute a heterogeneous set of diseases primarily characterized by muscle weakness. These are often multisystem in nature and present with effects primarily on the muscular, cardiac, and central nervous systems. These diverse muscular dystrophies encompass those with myotonic (both type I and II), congenital and limb-girdle forms but also include the Duchenne, Becker, and facioscapulohumeral (FSHD) muscular dystrophies. A range of genetic mutations and splicing events across these muscular dystrophies prevent optimal protein production and disrupt effective cellular communication. Current research across muscular dystrophies implicates a role for regulatory mechanisms at the level of both transcriptomic and epigenomic events in the disease phenotype and suggests that the severity of disease is not solely dictated by events related to the underlying genetic mutation. In order to further categorize the molecular substrates underlying these diverse muscular dystrophies, their severity and potential treatment approaches, translational approaches in both cellular and animal models as well as humans are needed. This Special Issue will highlight these molecular substrates and seek to clarify novel avenues deserving of follow-up with high clinical utility.

Dr. Jeffrey Glennon
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 papers will be 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.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Type 1 and 2 myotonic dystrophy 
  • Facioscapulohumeral (FSHD) muscular dystrophy 
  • Duchenne muscular dystrophy
  • Genomics 
  • Biochemistry 
  • Epigenetics 
  • Cellular models 
  • Animal models 
  • Pharmacology

Published Papers (1 paper)

Order results
Result details
Select all
Export citation of selected articles as:

Research

Article
Differential Effects of Halofuginone Enantiomers on Muscle Fibrosis and Histopathology in Duchenne Muscular Dystrophy
Int. J. Mol. Sci. 2021, 22(13), 7063; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22137063 - 30 Jun 2021
Viewed by 624
Abstract
Progressive loss of muscle and muscle function is associated with significant fibrosis in Duchenne muscular dystrophy (DMD) patients. Halofuginone, an analog of febrifugine, prevents fibrosis in various animal models, including those of muscular dystrophies. Effects of (+)/(−)-halofuginone enantiomers on motor coordination and diaphragm [...] Read more.
Progressive loss of muscle and muscle function is associated with significant fibrosis in Duchenne muscular dystrophy (DMD) patients. Halofuginone, an analog of febrifugine, prevents fibrosis in various animal models, including those of muscular dystrophies. Effects of (+)/(−)-halofuginone enantiomers on motor coordination and diaphragm histopathology in mdx mice, the mouse model for DMD, were examined. Four-week-old male mice were treated with racemic halofuginone, or its separate enantiomers, for 10 weeks. Controls were treated with saline. Racemic halofuginone-treated mice demonstrated better motor coordination and balance than controls. However, (+)-halofuginone surpassed the racemic form’s effect. No effect was observed for (−)-halofuginone, which behaved like the control. A significant reduction in collagen content and degenerative areas, and an increase in utrophin levels were observed in diaphragms of mice treated with racemic halofuginone. Again, (+)-halofuginone was more effective than the racemic form, whereas (−)-halofuginone had no effect. Both racemic and (+)-halofuginone increased diaphragm myofiber diameters, with no effect for (−)-halofuginone. No effects were observed for any of the compounds tested in an in-vitro cell viability assay. These results, demonstrating a differential effect of the halofuginone enantiomers and superiority of (+)-halofuginone, are of great importance for future use of (+)-halofuginone as a DMD antifibrotic therapy. Full article
(This article belongs to the Special Issue Molecular Mechanisms of Muscular Dystrophy)
Show Figures

Figure 1

Back to TopTop