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Molecular Mechanisms and Therapies in Skeletal Muscle Diseases
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Molecular Mechanisms and Therapies in Skeletal 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: 31 August 2024 | Viewed by 2151

Special Issue Editor

Dr. Valeria Guglielmi

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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,

Skeletal muscle is the largest organ in the body and represents 40% of total body mass. Its primary functions are to enable movement, sustain body posture, maintain body temperature, store nutrients, and regulate metabolism. Impairment of these functions occurs in skeletal muscle diseases, a heterogeneous group of over 100 inherited or acquired conditions that affect skeletal muscle. Clinically, they are mainly characterized by progressive muscle weakness and fatigue that usually involve specific muscles, and, for some conditions, lead to severe disability. Skeletal muscle diseases affect millions of people worldwide and account for considerable healthcare costs. Current treatment options are limited and mostly aimed at managing symptoms. Despite extraordinary progresses have been made in uncovering disease mechanisms, our knowledge of their etiology and pathogenesis is far from complete. Further understanding of the molecular bases of these disorders is necessary to develop effective therapies for patients.

This Special Issue will feature recent findings on the cellular and molecular mechanisms of skeletal muscle diseases and highlight current research on emerging new therapeutic approaches for these disorders. We look forward to receiving original research and reviews on these and related topics.

Dr. Valeria Guglielmi
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 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

  • skeletal muscle
  • skeletal muscle diseases
  • pathogenesis
  • molecular mechanism
  • muscle degeneration
  • muscle regeneration
  • myokines
  • cell therapy
  • gene therapy

Published Papers (2 papers)

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Research

14 pages, 3566 KiB  
Article
Enhanced Diaphragm Muscle Function upon Satellite Cell Transplantation in Dystrophic Mice
by Karim Azzag, Heather M. Gransee, Alessandro Magli, Aline M. S. Yamashita, Sudheer Tungtur, Aaron Ahlquist, Wen-Zhi Zhan, Chiemelie Onyebu, Sarah M. Greising, Carlos B. Mantilla and Rita C. R. Perlingeiro
Int. J. Mol. Sci. 2024, 25(5), 2503; https://doi.org/10.3390/ijms25052503 - 21 Feb 2024
Viewed by 983
Abstract
The diaphragm muscle is essential for breathing, and its dysfunctions can be fatal. Many disorders affect the diaphragm, including muscular dystrophies. Despite the clinical relevance of targeting the diaphragm, there have been few studies evaluating diaphragm function following a given experimental treatment, with [...] Read more.
The diaphragm muscle is essential for breathing, and its dysfunctions can be fatal. Many disorders affect the diaphragm, including muscular dystrophies. Despite the clinical relevance of targeting the diaphragm, there have been few studies evaluating diaphragm function following a given experimental treatment, with most of these involving anti-inflammatory drugs or gene therapy. Cell-based therapeutic approaches have shown success promoting muscle regeneration in several mouse models of muscular dystrophy, but these have focused mainly on limb muscles. Here we show that transplantation of as few as 5000 satellite cells directly into the diaphragm results in consistent and robust myofiber engraftment in dystrophin- and fukutin-related protein-mutant dystrophic mice. Transplanted cells also seed the stem cell reservoir, as shown by the presence of donor-derived satellite cells. Force measurements showed enhanced diaphragm strength in engrafted muscles. These findings demonstrate the feasibility of cell transplantation to target the diseased diaphragm and improve its contractility. Full article
(This article belongs to the Special Issue Molecular Mechanisms and Therapies in Skeletal Muscle Diseases)
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15 pages, 3020 KiB  
Article
Pharmacological Inhibition of Myostatin in a Mouse Model of Typical Nemaline Myopathy Increases Muscle Size and Force
by Johan Lindqvist and Henk Granzier
Int. J. Mol. Sci. 2023, 24(20), 15124; https://doi.org/10.3390/ijms242015124 - 12 Oct 2023
Cited by 1 | Viewed by 858
Abstract
Nemaline myopathy is one of the most common non-dystrophic congenital myopathies. Individuals affected by this condition experience muscle weakness and muscle smallness, often requiring supportive measures like wheelchairs or respiratory support. A significant proportion of patients, approximately one-third, exhibit compound heterozygous nebulin mutations, [...] Read more.
Nemaline myopathy is one of the most common non-dystrophic congenital myopathies. Individuals affected by this condition experience muscle weakness and muscle smallness, often requiring supportive measures like wheelchairs or respiratory support. A significant proportion of patients, approximately one-third, exhibit compound heterozygous nebulin mutations, which usually give rise to the typical form of the disease. Currently, there are no approved treatments available for nemaline myopathy. Our research explored the modulation of myostatin, a negative regulator of muscle mass, in combating the muscle smallness associated with the disease. To investigate the effect of myostatin inhibition, we employed a mouse model with compound heterozygous nebulin mutations that mimic the typical form of the disease. The mice were treated with mRK35, a myostatin antibody, through weekly intraperitoneal injections of 10 mg/kg mRK35, commencing at two weeks of age and continuing until the mice reached four months of age. The treatment resulted in an increase in body weight and an approximate 20% muscle weight gain across most skeletal muscles, without affecting the heart. The minimum Feret diameter of type IIA and IIB fibers exhibited an increase in compound heterozygous mice, while only type IIB fibers demonstrated an increase in wild-type mice. In vitro mechanical experiments conducted on intact extensor digitorum longus muscle revealed that mRK35 augmented the physiological cross-sectional area of muscle fibers and enhanced absolute tetanic force in both wild-type and compound heterozygous mice. Furthermore, mRK35 administration improved grip strength in treated mice. Collectively, these findings indicate that inhibiting myostatin can mitigate the muscle deficits in nebulin-based typical nemaline myopathy, potentially serving as a much-needed therapeutic option. Full article
(This article belongs to the Special Issue Molecular Mechanisms and Therapies in Skeletal Muscle Diseases)
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