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Unlocking the Future of Muscle Disease Treatment: Advancements in Gene Therapy, Antisense Therapeutics and Cutting-Edge Pharmacological Strategies

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: 20 October 2024 | Viewed by 1703

Special Issue Editors

Dr. Ngoc B. Lu-Nguyen

E-Mail Website
Guest Editor
Royal Holloway, University of London, Egham Hill, TW20 0EX Egham, Surrey, UK
Interests: facioscapuloperoneal muscular dystrophy; duchenne muscular dystrophy; gene therapy; antisense therapeutics; pharmacological treatments
Special Issues, Collections and Topics in MDPI journals
Dr. Alberto Malerba

E-Mail Website
Guest Editor
Royal Holloway, University of London, Egham Hill, TW20 0EX Egham, Surrey, UK
Interests: oculopharyngeal muscular dystrophy; duchenne muscular dystrophy; gene therapy; antisense therapeutics; pharmacological treatments

Special Issue Information

Dear Colleagues,

Muscle disorders, including muscular dystrophy and various neuromuscular diseases, are remarkably heterogenic in terms of genetic defects, pathophysiology, and the age of onset. Unfortunately, effective treatments for these disorders have been elusive, principally due to their rarity and the necessity of often mutation-specific approaches and tailored therapies. However, in recent years, we have witnessed the emergence of novel therapies, such as gene therapy, antisense therapeutics, and pharmacological approaches. These breakthroughs have shown promise for the treatment of diseases like Duchenne muscular dystrophy and spinal muscular atrophy and ongoing advancements in the development of treatments for myotubular myopathy or limb girdle muscular dystrophy. These encouraging advancements demonstrate the feasibility of developing treatments for severe and complex muscle diseases using new tools and models and via collaboration between preclinical research laboratories and industries.

In light of these remarkable advancements, we invite scholars to contribute to our Special Issue on “Unlocking the Future of Muscle Disease Treatment: Advancements in Gene Therapy, Antisense Therapeutics and Cutting-Edge Pharmacological Strategies”. We encourage the submission of manuscripts describing basic and translational research studies. We aim to provide the latest insights into the development of innovative methodologies, including in silico and bioinformatics approaches, as well as advancements in in vitro and in vivo models. Ultimately, this Special Issue seeks to shed light on the progress and potential of innovative therapeutic strategies for the treatment of muscular diseases.

Dr. Ngoc B. Lu-Nguyen
Dr. Alberto Malerba
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

  • muscle disease
  • antisense therapeutics
  • gene therapy
  • pharmacological approach
  • bioinformatic tools
  • cellular models
  • animal models

Published Papers (3 papers)

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Research

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17 pages, 3205 KiB  
Article
Systemic Pharmacotherapeutic Treatment of the ACTA1-MCM/FLExDUX4 Preclinical Mouse Model of FSHD
by Ngoc Lu-Nguyen, Stuart Snowden, Linda Popplewell and Alberto Malerba
Int. J. Mol. Sci. 2024, 25(13), 6994; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms25136994 - 26 Jun 2024
Viewed by 190
Abstract
Aberrant expression of the double homeobox 4 (DUX4) gene in skeletal muscle predominantly drives the pathogenesis of facioscapulohumeral muscular dystrophy (FSHD). We recently demonstrated that berberine, an herbal extract known for its ability to stabilize guanine–quadruplex structures, effectively downregulates DUX4 expression [...] Read more.
Aberrant expression of the double homeobox 4 (DUX4) gene in skeletal muscle predominantly drives the pathogenesis of facioscapulohumeral muscular dystrophy (FSHD). We recently demonstrated that berberine, an herbal extract known for its ability to stabilize guanine–quadruplex structures, effectively downregulates DUX4 expression in FSHD patient-derived myoblasts and in mice overexpressing exogenous DUX4 after viral vector-based treatment. Here, we sought to confirm berberine’s inhibitory efficacy on DUX4 in the widely used FSHD-like transgenic mouse model, ACTA1-MCM/FLExDUX4, where DUX4 is induced at pathogenic levels using tamoxifen. Animals repeatedly treated with berberine via intraperitoneal injections for 4 weeks exhibited significant reductions in both mRNA and protein levels of DUX4, and in mRNA expression of murine DUX4-related genes. This inhibition translated into improved forelimb muscle strength and positive alterations in important FSHD-relevant cellular pathways, although its impact on muscle mass and histopathology was less pronounced. Collectively, our data confirm the efficacy of berberine in downregulating DUX4 expression in the most relevant FSHD mouse model. However, further optimization of dosing regimens and new studies to enhance the bioavailability of berberine in skeletal muscle are warranted to fully leverage its therapeutic potential for FSHD treatment. Full article
(This article belongs to the Special Issue Unlocking the Future of Muscle Disease Treatment: Advancements in Gene Therapy, Antisense Therapeutics and Cutting-Edge Pharmacological Strategies)

Review

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19 pages, 1308 KiB  
Review
The Role of MicroRNA in the Pathogenesis of Duchenne Muscular Dystrophy
by Kajetan Kiełbowski, Estera Bakinowska, Grzegorz Procyk, Marta Ziętara and Andrzej Pawlik
Int. J. Mol. Sci. 2024, 25(11), 6108; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms25116108 - 1 Jun 2024
Viewed by 340
Abstract
Duchenne muscular dystrophy (DMD) is an X-linked progressive disorder associated with muscle wasting and degeneration. The disease is caused by mutations in the gene that encodes dystrophin, a protein that links the cytoskeleton with cell membrane proteins. The current treatment methods aim to [...] Read more.
Duchenne muscular dystrophy (DMD) is an X-linked progressive disorder associated with muscle wasting and degeneration. The disease is caused by mutations in the gene that encodes dystrophin, a protein that links the cytoskeleton with cell membrane proteins. The current treatment methods aim to relieve the symptoms of the disease or partially rescue muscle functionality. However, they are insufficient to suppress disease progression. In recent years, studies have uncovered an important role for non-coding RNAs (ncRNAs) in regulating the progression of numerous diseases. ncRNAs, such as micro-RNAs (miRNAs), bind to their target messenger RNAs (mRNAs) to suppress translation. Understanding the mechanisms involving dysregulated miRNAs can improve diagnosis and suggest novel treatment methods for patients with DMD. This review presents the available evidence on the role of altered expression of miRNAs in the pathogenesis of DMD. We discuss the involvement of these molecules in the processes associated with muscle physiology and DMD-associated cardiomyopathy. Full article
(This article belongs to the Special Issue Unlocking the Future of Muscle Disease Treatment: Advancements in Gene Therapy, Antisense Therapeutics and Cutting-Edge Pharmacological Strategies)
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19 pages, 2600 KiB  
Review
Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities
by Bal Hari Poudel, Sue Fletcher, Steve D. Wilton and May Aung-Htut
Int. J. Mol. Sci. 2024, 25(11), 5572; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms25115572 - 21 May 2024
Viewed by 787
Abstract
Dysferlin is a large transmembrane protein involved in critical cellular processes including membrane repair and vesicle fusion. Mutations in the dysferlin gene (DYSF) can result in rare forms of muscular dystrophy; Miyoshi myopathy; limb girdle muscular dystrophy type 2B (LGMD2B); and [...] Read more.
Dysferlin is a large transmembrane protein involved in critical cellular processes including membrane repair and vesicle fusion. Mutations in the dysferlin gene (DYSF) can result in rare forms of muscular dystrophy; Miyoshi myopathy; limb girdle muscular dystrophy type 2B (LGMD2B); and distal myopathy. These conditions are collectively known as dysferlinopathies and are caused by more than 600 mutations that have been identified across the DYSF gene to date. In this review, we discuss the key molecular and clinical features of LGMD2B, the causative gene DYSF, and the associated dysferlin protein structure. We also provide an update on current approaches to LGMD2B diagnosis and advances in drug development, including splice switching antisense oligonucleotides. We give a brief update on clinical trials involving adeno-associated viral gene therapy and the current progress on CRISPR/Cas9 mediated therapy for LGMD2B, and then conclude by discussing the prospects of antisense oligomer-based intervention to treat selected mutations causing dysferlinopathies. Full article
(This article belongs to the Special Issue Unlocking the Future of Muscle Disease Treatment: Advancements in Gene Therapy, Antisense Therapeutics and Cutting-Edge Pharmacological Strategies)
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