ijms-logo

Journal Browser

Journal Browser

Pathogenic Mechanisms of Muscle Diseases

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 (31 December 2021) | Viewed by 2750

Special Issue Editors


E-Mail Website
Guest Editor
Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Piazzale L.A. Scuro 10, 37134 Verona, Italy
Interests: idiopathic inflammatory myopathies; sporadic inclusion body myositis (sIBM); protein aggregates myopathies; nuclear envelopathies; amyotrophic lateral sclerosis
Special Issues, Collections and Topics in MDPI journals

E-Mail
Guest Editor
Cancer Metabolism and Microenvironment Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA
Interests: skeletal muscle diseases; immune and hematopoietic systems; nuclear pore complex
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Muscle diseases comprise a heterogeneous group of inherited or acquired conditions that affect the muscular system. Although individually rare, these disorders collectively afflict millions of people worldwide. The cardinal clinical feature is weakness that is usually progressive and involves mainly proximal muscles, but the distribution of muscular impairment and its severity may vary widely. Although significant progress has been made in the identification of causative genes and mutations, the pathogenesis and basic mechanisms of several of muscle diseases remain to be fully elucidated. Muscle biopsy from patients, primary human skeletal muscle tissue cultures, and disease modeling in different organisms have turned out to be powerful and valuable tools to dissect the complex pathophysiology of such diseases, with the ultimate goal of developing novel therapeutic targets.

This Special Issue will focus on studies exploring the cellular and molecular mechanisms underpinning primary muscle diseases, both genetic and acquired, by using in vitro and in vivo experimental models as well as patient-derived material. Original research articles, mini and full reviews, short communications, perspectives, and commentaries are welcome.

Dr. Gaetano Vattemi
Dr. Valeria Guglielmi
Guest Editors

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 submissions that pass pre-check are 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

  • acquired muscle diseases
  • inherited muscle diseases
  • pathogenesis
  • molecular and cellular mechanisms
  • in vitro and in vivo models

Published Papers (1 paper)

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

Research

17 pages, 2748 KiB  
Article
Dysregulated Autophagy and Mitophagy in a Mouse Model of Duchenne Muscular Dystrophy Remain Unchanged Following Heme Oxygenase-1 Knockout
by Olga Mucha, Katarzyna Kaziród, Paulina Podkalicka, Kinga Rusin, Józef Dulak and Agnieszka Łoboda
Int. J. Mol. Sci. 2022, 23(1), 470; https://doi.org/10.3390/ijms23010470 - 31 Dec 2021
Cited by 9 | Viewed by 1947
Abstract
Dysregulation of autophagy may contribute to the progression of various muscle diseases, including Duchenne muscular dystrophy (DMD). Heme oxygenase-1 (HO-1, encoded by Hmox1), a heme-degrading enzyme, may alleviate symptoms of DMD, inter alia, through anti-inflammatory properties. In the present study, we determined [...] Read more.
Dysregulation of autophagy may contribute to the progression of various muscle diseases, including Duchenne muscular dystrophy (DMD). Heme oxygenase-1 (HO-1, encoded by Hmox1), a heme-degrading enzyme, may alleviate symptoms of DMD, inter alia, through anti-inflammatory properties. In the present study, we determined the role of HO-1 in the regulation of autophagy and mitophagy in mdx animals, a commonly used mouse model of the disease. In the gastrocnemius of 6-week-old DMD mice, the mRNA level of mitophagy markers: Bnip3 and Pink1, as well as autophagy regulators, e.g., Becn1, Map1lc3b, Sqstm1, and Atg7, was decreased. In the dystrophic diaphragm, changes in the latter were less prominent. In older, 12-week-old dystrophic mice, diminished expressions of Pink1 and Sqstm1 with upregulation of Atg5, Atg7, and Lamp1 was depicted. Interestingly, we demonstrated higher protein levels of autophagy regulator, LC3, in dystrophic muscles. Although the lack of Hmox1 in mdx mice influenced blood cell count and the abundance of profibrotic proteins, no striking differences in mRNA and protein levels of autophagy and mitophagy markers were found. In conclusion, we demonstrated complex, tissue, and age-dependent dysregulation of mitophagic and autophagic markers in DMD mice, which are not affected by the additional lack of Hmox1. Full article
(This article belongs to the Special Issue Pathogenic Mechanisms of Muscle Diseases)
Show Figures

Figure 1

Back to TopTop