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Molecular Advances of Muscular Dystrophy
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Molecular Advances of Muscular Dystrophy

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

Deadline for manuscript submissions: closed (30 June 2023) | Viewed by 21163

Special Issue Editor

Dr. Mariko Taniguchi-Ikeda

E-Mail Website
Guest Editor
Department of Pediatrics, Osaka City University, Osaka 565-0871, Japan
Interests: congenital muscular dystrophy; molecular genetics human molecular genetics; mutation; gene expression; dystroglycanopathies

Special Issue Information

Dear Colleagues,

Muscular Dystrophies (MDs) are defined as a group of inherited genetic conditions that gradually cause the muscles to weaken, leading to an increasing level of disability. MD is caused by changes (mutations) in the genes responsible for the structure and functioning of a person's muscles. The mutations cause changes in the muscle fibers that interfere with the muscles' ability to function. Over time, this causes increasing disability.

There are about seven types of inherited muscle pathologies such as Duchenne MD, Becker MD, FacioScapulohumeral MD, Limb-Girdle MD, Myotonic Dystrophy, Oculopharyngeal MD and Emery-Dreifuss MD.

New research is looking into ways of repairing the genetic mutations and damaged muscles associated with MD. Current research across muscular dystrophies implicates a role for regulatory mechanisms at the level of both transcriptomic and epigenetic events in the disease phenotype, and suggests that the severity of disease is not solely dictated by events related to the underlying genetic mutation. And 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.

This issue will give recent insights into cellular, genomic and proteomics mechanisms that are primarily and secondarily disrupted in MDs, focusing on omics technologies and signaling mechanisms causing muscle degeneration and regeneration, defects in muscle growth and the repair of skeletal.

The Special Issue entitled “Molecular Advances in Muscular Dystrophy” is now open for submissions, welcoming original manuscripts which aims to and reviews dealing with specific aspects of cell signaling and omics in MDs.

Dr. Mariko Taniguchi-Ikeda
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

  • muscular dystrophy
  • duchenne muscular dystrophy
  • skeletal muscle
  • gene mutations
  • epigenetics
  • cellular signaling
  • cell-based therapy
  • metabolic dysfunction
  • proteases
  • gene therapy
  • miRNAs
  • pharmacological strategies

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Published Papers (5 papers)

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Research

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16 pages, 1249 KiB  
Article
Serum Myostatin among Excessive Drinkers
by Candelaria Martín-González, Onán Pérez-Hernández, Alen García-Rodríguez, Pedro Abreu-González, Paula Ortega-Toledo, Camino María Fernández-Rodríguez, Julio César Alvisa-Negrín, Antonio Martínez-Riera and Emilio González-Reimers
Int. J. Mol. Sci. 2023, 24(3), 2981; https://doi.org/10.3390/ijms24032981 - 3 Feb 2023
Cited by 1 | Viewed by 1932
Abstract
Myostatin acts as a negative regulator of muscle growth. Its effect on fat mass is subject to debate. Among alcoholics, there is a high prevalence of muscle atrophy, and increased fat deposition has been also described in these patients. Myostatin could be involved [...] Read more.
Myostatin acts as a negative regulator of muscle growth. Its effect on fat mass is subject to debate. Among alcoholics, there is a high prevalence of muscle atrophy, and increased fat deposition has been also described in these patients. Myostatin could be involved in these alterations, but its relationships with body composition have been scarcely studied in alcoholic patients. To analyze the behavior of myostatin among alcoholics and its relationship with alcohol intake, liver function, and body composition. We investigated serum myostatin in 59 male patients and 18 controls. Patients were all heavy drinkers admitted with organic complications related to excessive ethanol ingestion. Densitometry analysis was used to assess body composition in 46 patients. Handgrip was assessed in 51 patients. Patients showed lower myostatin values than controls (Z = 3.80; p < 0.001). There was a significant relationship between myostatin and fat at the right leg (ρ = 0.32; p = 0.028), left leg (ρ = 0.32; p = 0.028), trunk (ρ = 0.31, p = 0.038), total fat proport ion (ρ = 0.33, p = 0.026), and gynecoid fat distribution (ρ = 0.40, p = 0.006) but not with lean mass (total lean ρ = 0.07; p = 0.63; trunk lean ρ = 0.03; p = 0.85; lower limbs ρ = 0.08; p = 0.58; upper limbs ρ = 0.04 p = 0.82; android ρ = 0.02; p = 0.88, or gynoid lean mass ρ = 0.20; p = 0.19). In total, 80.43% of patients showed at least one criterion of osteosarcopenic adiposity (OSA). Myostatin was related to OSA obesity. We also observed higher myostatin values among patients with body mass index > 30 kg/m2. Serum myostatin was lower among excessive drinkers, and it was related to increased fat deposition among these patients but not to lean mass, handgrip, or bone mineral density. Full article
(This article belongs to the Special Issue Molecular Advances of Muscular Dystrophy)
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Review

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23 pages, 1970 KiB  
Review
Influence of DUX4 Expression in Facioscapulohumeral Muscular Dystrophy and Possible Treatments
by Elisa Duranti and Chiara Villa
Int. J. Mol. Sci. 2023, 24(11), 9503; https://doi.org/10.3390/ijms24119503 - 30 May 2023
Cited by 4 | Viewed by 3515
Abstract
Facioscapulohumeral muscular dystrophy (FSHD) represents the third most common form of muscular dystrophy and is characterized by muscle weakness and atrophy. FSHD is caused by the altered expression of the transcription factor double homeobox 4 (DUX4), which is involved in several significantly altered [...] Read more.
Facioscapulohumeral muscular dystrophy (FSHD) represents the third most common form of muscular dystrophy and is characterized by muscle weakness and atrophy. FSHD is caused by the altered expression of the transcription factor double homeobox 4 (DUX4), which is involved in several significantly altered pathways required for myogenesis and muscle regeneration. While DUX4 is normally silenced in the majority of somatic tissues in healthy individuals, its epigenetic de-repression has been linked to FSHD, resulting in DUX4 aberrant expression and cytotoxicity in skeletal muscle cells. Understanding how DUX4 is regulated and functions could provide useful information not only to further understand FSHD pathogenesis, but also to develop therapeutic approaches for this disorder. Therefore, this review discusses the role of DUX4 in FSHD by examining the possible molecular mechanisms underlying the disease as well as novel pharmacological strategies targeting DUX4 aberrant expression. Full article
(This article belongs to the Special Issue Molecular Advances of Muscular Dystrophy)
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29 pages, 2073 KiB  
Review
Histone Deacetylases: Molecular Mechanisms and Therapeutic Implications for Muscular Dystrophies
by Martina Sandonà, Giorgia Cavioli, Alessandra Renzini, Alessia Cedola, Giuseppe Gigli, Dario Coletti, Timothy A. McKinsey, Viviana Moresi and Valentina Saccone
Int. J. Mol. Sci. 2023, 24(5), 4306; https://doi.org/10.3390/ijms24054306 - 21 Feb 2023
Cited by 18 | Viewed by 4064
Abstract
Histone deacetylases (HDACs) are enzymes that regulate the deacetylation of numerous histone and non-histone proteins, thereby affecting a wide range of cellular processes. Deregulation of HDAC expression or activity is often associated with several pathologies, suggesting potential for targeting these enzymes for therapeutic [...] Read more.
Histone deacetylases (HDACs) are enzymes that regulate the deacetylation of numerous histone and non-histone proteins, thereby affecting a wide range of cellular processes. Deregulation of HDAC expression or activity is often associated with several pathologies, suggesting potential for targeting these enzymes for therapeutic purposes. For example, HDAC expression and activity are higher in dystrophic skeletal muscles. General pharmacological blockade of HDACs, by means of pan-HDAC inhibitors (HDACi), ameliorates both muscle histological abnormalities and function in preclinical studies. A phase II clinical trial of the pan-HDACi givinostat revealed partial histological improvement and functional recovery of Duchenne Muscular Dystrophy (DMD) muscles; results of an ongoing phase III clinical trial that is assessing the long-term safety and efficacy of givinostat in DMD patients are pending. Here we review the current knowledge about the HDAC functions in distinct cell types in skeletal muscle, identified by genetic and -omic approaches. We describe the signaling events that are affected by HDACs and contribute to muscular dystrophy pathogenesis by altering muscle regeneration and/or repair processes. Reviewing recent insights into HDAC cellular functions in dystrophic muscles provides new perspectives for the development of more effective therapeutic approaches based on drugs that target these critical enzymes. Full article
(This article belongs to the Special Issue Molecular Advances of Muscular Dystrophy)
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11 pages, 894 KiB  
Review
P2 Receptor Signaling in Motor Units in Muscular Dystrophy
by Adel E. Khairullin, Sergey N. Grishin and Ayrat U. Ziganshin
Int. J. Mol. Sci. 2023, 24(2), 1587; https://doi.org/10.3390/ijms24021587 - 13 Jan 2023
Cited by 7 | Viewed by 1779
Abstract
The purine signaling system is represented by purine and pyrimidine nucleotides and nucleosides that exert their effects through the adenosine, P2X and P2Y receptor families. It is known that, under physiological conditions, P2 receptors play only a minor role in modulating the functions [...] Read more.
The purine signaling system is represented by purine and pyrimidine nucleotides and nucleosides that exert their effects through the adenosine, P2X and P2Y receptor families. It is known that, under physiological conditions, P2 receptors play only a minor role in modulating the functions of cells and systems; however, their role significantly increases under some pathophysiological conditions, such as stress, ischemia or hypothermia, when they can play a dominant role as a signaling molecule. The diversity of P2 receptors and their wide distribution in the body make them very attractive as a target for the pharmacological action of drugs with a new mechanism of action. The review is devoted to the involvement of P2 signaling in the development of pathologies associated with a loss of muscle mass. The contribution of adenosine triphosphate (ATP) as a signal molecule in the pathogenesis of a number of muscular dystrophies (Duchenne, Becker and limb girdle muscular dystrophy 2B) is considered. To understand the processes involving the purinergic system, the role of the ATP and P2 receptors in several models associated with skeletal muscle degradation is also discussed. Full article
(This article belongs to the Special Issue Molecular Advances of Muscular Dystrophy)
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38 pages, 7366 KiB  
Review
Histological Methods to Assess Skeletal Muscle Degeneration and Regeneration in Duchenne Muscular Dystrophy
by Nicolas Dubuisson, Romain Versele, Chloé Planchon, Camille M. Selvais, Laurence Noel, Michel Abou-Samra and María A. Davis-López de Carrizosa
Int. J. Mol. Sci. 2022, 23(24), 16080; https://doi.org/10.3390/ijms232416080 - 16 Dec 2022
Cited by 7 | Viewed by 8974
Abstract
Duchenne muscular dystrophy (DMD) is a progressive disease caused by the loss of function of the protein dystrophin. This protein contributes to the stabilisation of striated cells during contraction, as it anchors the cytoskeleton with components of the extracellular matrix through the dystrophin-associated [...] Read more.
Duchenne muscular dystrophy (DMD) is a progressive disease caused by the loss of function of the protein dystrophin. This protein contributes to the stabilisation of striated cells during contraction, as it anchors the cytoskeleton with components of the extracellular matrix through the dystrophin-associated protein complex (DAPC). Moreover, absence of the functional protein affects the expression and function of proteins within the DAPC, leading to molecular events responsible for myofibre damage, muscle weakening, disability and, eventually, premature death. Presently, there is no cure for DMD, but different treatments help manage some of the symptoms. Advances in genetic and exon-skipping therapies are the most promising intervention, the safety and efficiency of which are tested in animal models. In addition to in vivo functional tests, ex vivo molecular evaluation aids assess to what extent the therapy has contributed to the regenerative process. In this regard, the later advances in microscopy and image acquisition systems and the current expansion of antibodies for immunohistological evaluation together with the development of different spectrum fluorescent dyes have made histology a crucial tool. Nevertheless, the complexity of the molecular events that take place in dystrophic muscles, together with the rise of a multitude of markers for each of the phases of the process, makes the histological assessment a challenging task. Therefore, here, we summarise and explain the rationale behind different histological techniques used in the literature to assess degeneration and regeneration in the field of dystrophinopathies, focusing especially on those related to DMD. Full article
(This article belongs to the Special Issue Molecular Advances of Muscular Dystrophy)
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