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Skeletal Muscle Mitochondria Dysfunction in Genetic Neuromuscular Disorders with Cardiac Phenotype

Mitochondrial dysfunction is considered the major contributor to skeletal muscle wasting in different conditions. Genetically determined neuromuscular disorders occur as a result of mutations in the structural proteins of striated muscle cells and therefore are often combined with cardiac phenotype,...

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Autores principales: Ignatieva, Elena, Smolina, Natalia, Kostareva, Anna, Dmitrieva, Renata
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8307986/
https://www.ncbi.nlm.nih.gov/pubmed/34298968
http://dx.doi.org/10.3390/ijms22147349
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author Ignatieva, Elena
Smolina, Natalia
Kostareva, Anna
Dmitrieva, Renata
author_facet Ignatieva, Elena
Smolina, Natalia
Kostareva, Anna
Dmitrieva, Renata
author_sort Ignatieva, Elena
collection PubMed
description Mitochondrial dysfunction is considered the major contributor to skeletal muscle wasting in different conditions. Genetically determined neuromuscular disorders occur as a result of mutations in the structural proteins of striated muscle cells and therefore are often combined with cardiac phenotype, which most often manifests as a cardiomyopathy. The specific roles played by mitochondria and mitochondrial energetic metabolism in skeletal muscle under muscle-wasting conditions in cardiomyopathies have not yet been investigated in detail, and this aspect of genetic muscle diseases remains poorly characterized. This review will highlight dysregulation of mitochondrial representation and bioenergetics in specific skeletal muscle disorders caused by mutations that disrupt the structural and functional integrity of muscle cells.
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spelling pubmed-83079862021-07-25 Skeletal Muscle Mitochondria Dysfunction in Genetic Neuromuscular Disorders with Cardiac Phenotype Ignatieva, Elena Smolina, Natalia Kostareva, Anna Dmitrieva, Renata Int J Mol Sci Review Mitochondrial dysfunction is considered the major contributor to skeletal muscle wasting in different conditions. Genetically determined neuromuscular disorders occur as a result of mutations in the structural proteins of striated muscle cells and therefore are often combined with cardiac phenotype, which most often manifests as a cardiomyopathy. The specific roles played by mitochondria and mitochondrial energetic metabolism in skeletal muscle under muscle-wasting conditions in cardiomyopathies have not yet been investigated in detail, and this aspect of genetic muscle diseases remains poorly characterized. This review will highlight dysregulation of mitochondrial representation and bioenergetics in specific skeletal muscle disorders caused by mutations that disrupt the structural and functional integrity of muscle cells. MDPI 2021-07-08 /pmc/articles/PMC8307986/ /pubmed/34298968 http://dx.doi.org/10.3390/ijms22147349 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Ignatieva, Elena
Smolina, Natalia
Kostareva, Anna
Dmitrieva, Renata
Skeletal Muscle Mitochondria Dysfunction in Genetic Neuromuscular Disorders with Cardiac Phenotype
title Skeletal Muscle Mitochondria Dysfunction in Genetic Neuromuscular Disorders with Cardiac Phenotype
title_full Skeletal Muscle Mitochondria Dysfunction in Genetic Neuromuscular Disorders with Cardiac Phenotype
title_fullStr Skeletal Muscle Mitochondria Dysfunction in Genetic Neuromuscular Disorders with Cardiac Phenotype
title_full_unstemmed Skeletal Muscle Mitochondria Dysfunction in Genetic Neuromuscular Disorders with Cardiac Phenotype
title_short Skeletal Muscle Mitochondria Dysfunction in Genetic Neuromuscular Disorders with Cardiac Phenotype
title_sort skeletal muscle mitochondria dysfunction in genetic neuromuscular disorders with cardiac phenotype
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8307986/
https://www.ncbi.nlm.nih.gov/pubmed/34298968
http://dx.doi.org/10.3390/ijms22147349
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