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Special Issue "Advances in Metabolic Myopathies"

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Endocrinology & Metabolism".

Deadline for manuscript submissions: 30 June 2019

Special Issue Editors

Guest Editor
Dr. Massimiliano Filosto

ERN Euro-NMD Center for Neuromuscular Diseases, Unit of Neurology, ASST Spedali Civili and University of Brescia, Italy
Website | E-Mail
Interests: clinical; diagnostic; pathological and pathophysiological aspects of neuromuscular diseases, including metabolic myopathies (muscle glycogenosis, lipid storage myopathies, and mitochondrial diseases), muscular dystrophies, neuropathies and motor neuron diseases
Guest Editor
Prof. Alessandro Padovani

Unit of Neurology, Univeristy of Brescia nd ASST Spedali Civili Brescia, (Italy)
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Interests: clinical, diagnostic and pathophysiological aspects of neurodegenerative diseases

Special Issue Information

Dear Colleagues,

On behalf of the Journal of Clinical Medicine (JCM) Editorial Team, I am delighted to present a new Special Issue on the topic of “Advances in Metabolic Myopathies”, Guest Edited by Dr. Massimiliano Filosto, from the Center for Neuromuscular Diseases, Unit of Neurology, ASST Spedali Civili Brescia, Italy.

In recent years, the fields of metabolic myopathies have aroused increasing interest due to novel diagnostic genetic tools and the possibility of new therapies based on enzyme substitution or gene therapy.

Metabolic myopathies comprise a clinically and etiologically heterogeneous group of diseases, linked to defects in cell energy metabolism, including muscle glycogenosis, fatty acid-related myopathies, and mitochondrial respiratory chain defects. Clinical spectrum of this group of diseases is very wide and ranges from infantile-onset to adult-onset forms and includes fixed myopathies, exercise-related myopathies, and multisystem diseases. Diagnosing these disorders is often puzzling because of their heterogeneity and possible misdiagnosis.

The present Special Issue aims to provide non-specialist physicians in myology the tools to suspect a metabolic myopathy, to orientate among the various clinical forms in order to achieve a more rapid diagnosis, and to know current and future therapeutic options.

Dr. Massimiliano Filosto
Prof. Alessandro Padovani
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 papers will be 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. Journal of Clinical Medicine is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1800 CHF (Swiss Francs). 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

  • Metabolic Myopathies
  • Muscle Glycogenoses
  • Lipid Storage Myopathies
  • Mitochondrial Diseases
  • Treatment of Mmetabolic Myopathies

Published Papers (4 papers)

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Research

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Open AccessArticle
Diverse Action of Selected Statins on Skeletal Muscle Cells—An Attempt to Explain the Protective Effect of Geranylgeraniol (GGOH) in Statin-Associated Myopathy (SAM)
J. Clin. Med. 2019, 8(5), 694; https://doi.org/10.3390/jcm8050694
Received: 6 March 2019 / Revised: 30 April 2019 / Accepted: 14 May 2019 / Published: 16 May 2019
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Abstract
The present study is centered on molecular mechanisms of the cytoprotective effect of geranylgeraniol (GGOH) in skeletal muscle harmed by statin-associated myopathy (SAM). GGOH via autophagy induction was purportedly assumed to prevent skeletal muscle viability impaired by statins, atorvastatin (ATR) or simvastatin (SIM). [...] Read more.
The present study is centered on molecular mechanisms of the cytoprotective effect of geranylgeraniol (GGOH) in skeletal muscle harmed by statin-associated myopathy (SAM). GGOH via autophagy induction was purportedly assumed to prevent skeletal muscle viability impaired by statins, atorvastatin (ATR) or simvastatin (SIM). The C2C12 cell line was used as the ‘in vitro’ model of muscle cells at different stages of muscle formation, and the effect of ATR or SIM on the cell viability, protein expression and mitochondrial respiration were tested. Autophagy seems to be important for the differentiation of muscle cells; however, it did not participate in the observed GGOH cytoprotective effects. We showed that ATR- and SIM-dependent loss in cell viability was reversed by GGOH co-treatment, although GGOH did not reverse the ATR-induced drop in the cytochrome c oxidase protein expression level. It has been unambiguously revealed that the mitochondria of C2C12 cells are not sensitive to SIM, although ATR effectively inhibits mitochondrial respiration. GGOH restored proper mitochondria functioning. Apoptosis might, to some extent, explain the lower viability of statin-treated myotubes as the pan-caspase inhibitor, N-Benzyloxycarbonyl-Val-Ala-Asp(O-Me) fluoromethyl ketone (Z-VAD-FMK), partly reversed ATR- or SIM-induced cytotoxic effects; however, it does not do so in conjunction with caspase-3. It appears that the calpain inhibitor, N-Acetyl-L-leucyl-L-leucyl-L-norleucinal (ALLM), restored the viability that was reduced by ATR and SIM (p < 0.001). GGOH prevents SAM, in part, as a consequence of a caspase-3 independent pathway, probably by calpain system inactivation. Full article
(This article belongs to the Special Issue Advances in Metabolic Myopathies)
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Open AccessArticle
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease
J. Clin. Med. 2019, 8(1), 68; https://doi.org/10.3390/jcm8010068
Received: 30 November 2018 / Revised: 17 December 2018 / Accepted: 7 January 2019 / Published: 10 January 2019
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Abstract
Mitochondrial diseases (MD) are a group of genetic and acquired disorders which present significant diagnostic challenges. Here we report the disease characteristics of a large cohort of pediatric MD patients (n = 95) with a definitive genetic diagnosis, giving special emphasis on [...] Read more.
Mitochondrial diseases (MD) are a group of genetic and acquired disorders which present significant diagnostic challenges. Here we report the disease characteristics of a large cohort of pediatric MD patients (n = 95) with a definitive genetic diagnosis, giving special emphasis on clinical muscle involvement, biochemical and histopathological features. Of the whole cohort, 51 patients harbored mutations in nuclear DNA (nDNA) genes and 44 patients had mutations in mitochondrial DNA (mtDNA) genes. The nDNA patients were more likely to have a reduction in muscle fiber succinate dehydrogenase (SDH) stains and in SDH-positive blood vessels, while a higher frequency of mtDNA patients had ragged red (RRF) and blue fibers. The presence of positive histopathological features was associated with ophthalmoplegia, myopathic facies, weakness and exercise intolerance. In 17 patients younger than two years of age, RRF and blue fibers were observed only in one case, six cases presented cytochrome c oxidase (COX) reduction/COX-fibers, SDH reduction was observed in five and all except one presented SDH-positive blood vessels. In conclusion, muscle involvement was a frequent finding in our series of MD patients, especially in those harboring mutations in mtDNA genes. Full article
(This article belongs to the Special Issue Advances in Metabolic Myopathies)
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Review

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Open AccessReview
Lipid Myopathies
J. Clin. Med. 2018, 7(12), 472; https://doi.org/10.3390/jcm7120472
Received: 28 October 2018 / Revised: 15 November 2018 / Accepted: 17 November 2018 / Published: 23 November 2018
Cited by 1 | PDF Full-text (1148 KB) | HTML Full-text | XML Full-text
Abstract
Disorders of lipid metabolism affect several tissues, including skeletal and cardiac muscle tissues. Lipid myopathies (LM) are rare multi-systemic diseases, which most often are due to genetic defects. Clinically, LM can have acute or chronic clinical presentation. Disease onset can occur in all [...] Read more.
Disorders of lipid metabolism affect several tissues, including skeletal and cardiac muscle tissues. Lipid myopathies (LM) are rare multi-systemic diseases, which most often are due to genetic defects. Clinically, LM can have acute or chronic clinical presentation. Disease onset can occur in all ages, from early stages of life to late-adult onset, showing with a wide spectrum of clinical symptoms. Muscular involvement can be fluctuant or stable and can manifest as fatigue, exercise intolerance and muscular weakness. Muscular atrophy is rarely present. Acute muscular exacerbations, resulting in rhabdomyolysis crisis are triggered by several factors. Several classifications of lipid myopathies have been proposed, based on clinical involvement, biochemical defect or histopathological findings. Herein, we propose a full revision of all the main clinical entities of lipid metabolism disorders with a muscle involvement, also including some those disorders of fatty acid oxidation (FAO) with muscular symptoms not included among previous lipid myopathies classifications. Full article
(This article belongs to the Special Issue Advances in Metabolic Myopathies)
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Open AccessReview
Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE-MTDPS1)
J. Clin. Med. 2018, 7(11), 389; https://doi.org/10.3390/jcm7110389
Received: 2 October 2018 / Revised: 14 October 2018 / Accepted: 24 October 2018 / Published: 26 October 2018
Cited by 2 | PDF Full-text (666 KB) | HTML Full-text | XML Full-text
Abstract
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE-MTDPS1) is a devastating autosomal recessive disorder due to mutations in TYMP, which cause a loss of function of thymidine phosphorylase (TP), nucleoside accumulation in plasma and tissues, and mitochondrial dysfunction. The clinical picture includes progressive gastrointestinal dysmotility, cachexia, [...] Read more.
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE-MTDPS1) is a devastating autosomal recessive disorder due to mutations in TYMP, which cause a loss of function of thymidine phosphorylase (TP), nucleoside accumulation in plasma and tissues, and mitochondrial dysfunction. The clinical picture includes progressive gastrointestinal dysmotility, cachexia, ptosis and ophthalmoparesis, peripheral neuropathy, and diffuse leukoencephalopathy, which usually lead to death in early adulthood. Other two MNGIE-type phenotypes have been described so far, which are linked to mutations in POLG and RRM2B genes. Therapeutic options are currently available in clinical practice (allogeneic hematopoietic stem cell transplantation and carrier erythrocyte entrapped thymidine phosphorylase therapy) and newer, promising therapies are expected in the near future. Since successful treatment is strictly related to early diagnosis, it is essential that clinicians be warned about the clinical features and diagnostic procedures useful to suspect diagnosis of MNGIE-MTDPS1. The aim of this review is to promote the knowledge of the disease as well as the involved mechanisms and the diagnostic processes in order to reach an early diagnosis. Full article
(This article belongs to the Special Issue Advances in Metabolic Myopathies)
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