Muscular Dystrophy

A special issue of Journal of Functional Morphology and Kinesiology (ISSN 2411-5142).

Deadline for manuscript submissions: closed (31 March 2018) | Viewed by 21787

Special Issue Editor


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Guest Editor
Department Medicine and Surgery, University of Perugia, Perugia, Italy
Interests: myogenesis; satellite cells; muscle regeneration; muscular dystrophy; sarcopenia; cancer cachexia; rhabdomyosarcoma; S100B; RAGE (receptor for advanced glycation end-products)
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Special Issue Information

Dear Colleagues,

Muscular dystrophies (MDs) include several inherited diseases caused by mutations in distinct genes resulting in muscle degeneration, accumulation of fibrotic and fatty tissues, and loss of muscle force, the combination of which leads to impaired motor activity and, in some cases, premature death. Although different MDs share common histopathological hallmarks, different molecular mechanisms underline their etiology and pathological outcome. The most common MD is Duchenne muscular dystrophy (DMD), an X-linked recessive disease usually resulting in the complete absence of dystrophin, with consequent destabilization of the structural and functional integrity of myofibers during contraction. In dystrophic muscles, degeneration is followed by necrosis and reactive regeneration, involving the recruitment of muscle precursor cells, especially the satellite cells. Reactive regeneration is finely regulated by paracrine and autocrine factors released by the damaged myofibers, neighboring cells and inflammatory cells recruited to the injured site.

This Special Issue will focus on the diverse aspects of “Muscular Dystrophy” at the molecular, cellular and whole organism level, including animal experimental models and human patients, and the therapeutic approaches proposed so far. Your contribution with original papers or review articles is particularly welcome.

Prof. Dr. Guglielmo Sorci
Guest Editor

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Keywords

  • Muscular dystrophy
  • Duchenne muscular dystrophy
  • Neuromuscular disorders
  • Muscle inflammation
  • Muscle regeneration
  • Muscle precursor cells
  • Satellite cells
  • Animal models
  • Clinical evidences
  • Therapeutic approaches

Published Papers (4 papers)

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Review

8 pages, 882 KiB  
Review
PKC Proteins and Muscular Dystrophy
by Giuliana Gobbi, Daniela Galli, Cecilia Carubbi, Luca Maria Neri, Elena Masselli, Giulia Pozzi, Marco Vitale and Prisco Mirandola
J. Funct. Morphol. Kinesiol. 2018, 3(1), 12; https://doi.org/10.3390/jfmk3010012 - 07 Feb 2018
Cited by 4 | Viewed by 3758
Abstract
Protein Kinase Cs (PKCs) are a family of 10 isoenzymes with critical roles in cell physiological processes like proliferation, differentiation, apoptosis. Muscular dystrophies are a heterogenous group of genetic degenerative diseases that affect skeletal and cardiac muscles. In the development of muscular dystrophies, [...] Read more.
Protein Kinase Cs (PKCs) are a family of 10 isoenzymes with critical roles in cell physiological processes like proliferation, differentiation, apoptosis. Muscular dystrophies are a heterogenous group of genetic degenerative diseases that affect skeletal and cardiac muscles. In the development of muscular dystrophies, several transduction pathways have been studied. A possible link between muscular dystrophies and PKCs have been recently proposed. After a brief description of the possible transduction pathways that are involved in the development of these genetic diseases, we summarize recent evidence on the role of PKC proteins in muscular dystrophies, with the aim to review possible candidates in molecular therapy of these pathologies. Full article
(This article belongs to the Special Issue Muscular Dystrophy)
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966 KiB  
Review
Employment of Microencapsulated Sertoli Cells as a New Tool to Treat Duchenne Muscular Dystrophy
by Sara Chiappalupi, Laura Salvadori, Giovanni Luca, Francesca Riuzzi, Riccardo Calafiore, Rosario Donato and Guglielmo Sorci
J. Funct. Morphol. Kinesiol. 2017, 2(4), 47; https://doi.org/10.3390/jfmk2040047 - 15 Dec 2017
Cited by 3 | Viewed by 4210
Abstract
Duchenne muscular dystrophy (DMD) is a lethal X-linked pathology due to lack of dystrophin and characterized by progressive muscle degeneration, impaired locomotion and premature death. The chronic presence of inflammatory cells, fibrosis and fat deposition are hallmarks of DMD muscle tissue. Many different [...] Read more.
Duchenne muscular dystrophy (DMD) is a lethal X-linked pathology due to lack of dystrophin and characterized by progressive muscle degeneration, impaired locomotion and premature death. The chronic presence of inflammatory cells, fibrosis and fat deposition are hallmarks of DMD muscle tissue. Many different therapeutic approaches to DMD have been tested, including cell-based and gene-based approaches, exon skipping, induction of expression of the dystrophin paralogue, utrophin, and, most recently the application of the CASPR/Cas9 genome editing system. However, corticosteroid treatment remains the gold standard therapy, even if corticosteroids have shown multiple undesirable side effects. Sertoli cells (SeC) have long been known for their ability to produce immunomodulatory and trophic factors, and have been used in a plethora of experimental models of disease. Recently, microencapsulated porcine SeC (MC-SeC) injected intraperitoneally in dystrophic mice produced morphological and functional benefits in muscles thanks to their release into the circulation of anti-inflammatory factors and heregulin β1, a known inducer of utrophin expression, thus opening a new avenue in the treatment of DMD. In order to stress the potentiality of the use of MC-SeC in the treatment of DMD, here, we examine the principal therapeutic approaches to DMD, and the properties of SeC (either nude or encapsulated into alginate-based microcapsules) and their preclinical and clinical use. Finally, we discuss the potential and future development of this latter approach. Full article
(This article belongs to the Special Issue Muscular Dystrophy)
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1371 KiB  
Review
Insights into the Pathogenic Secondary Symptoms Caused by the Primary Loss of Dystrophin
by Laura Forcina, Laura Pelosi, Carmen Miano and Antonio Musarò
J. Funct. Morphol. Kinesiol. 2017, 2(4), 44; https://doi.org/10.3390/jfmk2040044 - 02 Dec 2017
Cited by 13 | Viewed by 6810
Abstract
Duchenne muscular dystrophy (DMD) is an X-linked genetic disease in which the dystrophin gene is mutated, resulting in dysfunctional dystrophin protein. Without dystrophin, the dystrophin-glycoprotein complex (DGC) is unstable, leading to an increase in muscle damage. Moreover, the imbalance between muscle damage and [...] Read more.
Duchenne muscular dystrophy (DMD) is an X-linked genetic disease in which the dystrophin gene is mutated, resulting in dysfunctional dystrophin protein. Without dystrophin, the dystrophin-glycoprotein complex (DGC) is unstable, leading to an increase in muscle damage. Moreover, the imbalance between muscle damage and repair leads to a chronic inflammatory response and an increase in the amount of fibrosis over time. The absence of dystrophin at the sarcolemma also delocalizes and downregulates nitric oxide synthase (nNOS) and alters enzymatic antioxidant responses, leading to an increase in oxidative stress. In this review, we analyze the pathogenic role of both inflammation and oxidative stress in muscular dystrophy. Full article
(This article belongs to the Special Issue Muscular Dystrophy)
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902 KiB  
Review
Muscular Dystrophies and Cancer Cachexia: Similarities in Chronic Skeletal Muscle Degeneration
by Emanuele Berardi
J. Funct. Morphol. Kinesiol. 2017, 2(4), 39; https://doi.org/10.3390/jfmk2040039 - 07 Nov 2017
Cited by 7 | Viewed by 6470
Abstract
Muscular dystrophies (MDs) are inheritable diseases caused by mutations in specific genes encoding muscle proteins and characterized by progressive muscle wasting and weakness. MDs are classified into nine main categories, encompassing approximately 30 different diseases. Duchenne muscular dystrophy and Becker muscular dystrophy (DMD [...] Read more.
Muscular dystrophies (MDs) are inheritable diseases caused by mutations in specific genes encoding muscle proteins and characterized by progressive muscle wasting and weakness. MDs are classified into nine main categories, encompassing approximately 30 different diseases. Duchenne muscular dystrophy and Becker muscular dystrophy (DMD and BMD) are the most commonly diagnosed neuromuscular disorders, affecting respectively ~1/3500 and 3–6/100,000 male infants worldwide. DMD is characterized by absence of dystrophin function due to complete loss of expression or to the presence of a non-functional dystrophin protein in muscle tissue, while a semi-functional dystrophin isoform is typically present in BMD. Lack of dystrophin function in MDs induces myofiber damage, causing persistent cycles of degeneration/regeneration, exhaustion of regenerative potential and fibrosis, and resulting in muscle degeneration. Cancer cachexia is a multifactorial syndrome characterized by severe body weight loss and muscle degenerative atrophy. Up to 80% of cancer patients show cachexia, and the syndrome has been estimated to cause ~2 million of deaths per year. This cancer-related muscle wasting is mediated by pro-inflammatory cytokines and tumor-released mediators able to activate specific catabolic pathways in muscle tissue. MDs and cancer-associated cachexia (CAC) share some peculiar features, including systemic and muscle-specific inflammation, alteration of myogenic potential, ultrastructural abnormalities, and dysfunction of the dystrophin glycoprotein complex (DCG). This review focuses on the pathophysiological comparison between these two chronic muscle degenerative conditions and discusses the most relevant and promising therapeutic strategies considered so far. Full article
(This article belongs to the Special Issue Muscular Dystrophy)
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