An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases

Neuromuscular diseases (NMDs) are dysfunctions that involve skeletal muscle and cause incorrect communication between the nerves and muscles. The specific causes of NMDs are not well known, but most of them are caused by genetic mutations. NMDs are generally progressive and entail muscle weakness an...

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Autores principales:	Federica Marra, Paola Lunetti, Rosita Curcio, Francesco Massimo Lasorsa, Loredana Capobianco, Vito Porcelli, Vincenza Dolce, Giuseppe Fiermonte, Pasquale Scarcia
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	neuromuscular diseases mitochondrial metabolism OXPHOS mitochondrial carrier family neuromuscular junction myopathy Microbiology QR1-502
Acceso en línea:	https://doaj.org/article/32d8e5b4944a4c479666fbc332831895
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spelling	oai:doaj.org-article:32d8e5b4944a4c479666fbc3328318952021-11-25T16:53:09ZAn Overview of Mitochondrial Protein Defects in Neuromuscular Diseases10.3390/biom111116332218-273Xhttps://doaj.org/article/32d8e5b4944a4c479666fbc3328318952021-11-01T00:00:00Zhttps://www.mdpi.com/2218-273X/11/11/1633https://doaj.org/toc/2218-273XNeuromuscular diseases (NMDs) are dysfunctions that involve skeletal muscle and cause incorrect communication between the nerves and muscles. The specific causes of NMDs are not well known, but most of them are caused by genetic mutations. NMDs are generally progressive and entail muscle weakness and fatigue. Muscular impairments can differ in onset, severity, prognosis, and phenotype. A multitude of possible injury sites can make diagnosis of NMDs difficult. Mitochondria are crucial for cellular homeostasis and are involved in various metabolic pathways; for this reason, their dysfunction can lead to the development of different pathologies, including NMDs. Most NMDs due to mitochondrial dysfunction have been associated with mutations of genes involved in mitochondrial biogenesis and metabolism. This review is focused on some mitochondrial routes such as the TCA cycle, OXPHOS, and β-oxidation, recently found to be altered in NMDs. Particular attention is given to the alterations found in some genes encoding mitochondrial carriers, proteins of the inner mitochondrial membrane able to exchange metabolites between mitochondria and the cytosol. Briefly, we discuss possible strategies used to diagnose NMDs and therapies able to promote patient outcome.Federica MarraPaola LunettiRosita CurcioFrancesco Massimo LasorsaLoredana CapobiancoVito PorcelliVincenza DolceGiuseppe FiermontePasquale ScarciaMDPI AGarticleneuromuscular diseasesmitochondrial metabolismOXPHOSmitochondrial carrier familyneuromuscular junctionmyopathyMicrobiologyQR1-502ENBiomolecules, Vol 11, Iss 1633, p 1633 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	neuromuscular diseases mitochondrial metabolism OXPHOS mitochondrial carrier family neuromuscular junction myopathy Microbiology QR1-502
spellingShingle	neuromuscular diseases mitochondrial metabolism OXPHOS mitochondrial carrier family neuromuscular junction myopathy Microbiology QR1-502 Federica Marra Paola Lunetti Rosita Curcio Francesco Massimo Lasorsa Loredana Capobianco Vito Porcelli Vincenza Dolce Giuseppe Fiermonte Pasquale Scarcia An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases
description	Neuromuscular diseases (NMDs) are dysfunctions that involve skeletal muscle and cause incorrect communication between the nerves and muscles. The specific causes of NMDs are not well known, but most of them are caused by genetic mutations. NMDs are generally progressive and entail muscle weakness and fatigue. Muscular impairments can differ in onset, severity, prognosis, and phenotype. A multitude of possible injury sites can make diagnosis of NMDs difficult. Mitochondria are crucial for cellular homeostasis and are involved in various metabolic pathways; for this reason, their dysfunction can lead to the development of different pathologies, including NMDs. Most NMDs due to mitochondrial dysfunction have been associated with mutations of genes involved in mitochondrial biogenesis and metabolism. This review is focused on some mitochondrial routes such as the TCA cycle, OXPHOS, and β-oxidation, recently found to be altered in NMDs. Particular attention is given to the alterations found in some genes encoding mitochondrial carriers, proteins of the inner mitochondrial membrane able to exchange metabolites between mitochondria and the cytosol. Briefly, we discuss possible strategies used to diagnose NMDs and therapies able to promote patient outcome.
format	article
author	Federica Marra Paola Lunetti Rosita Curcio Francesco Massimo Lasorsa Loredana Capobianco Vito Porcelli Vincenza Dolce Giuseppe Fiermonte Pasquale Scarcia
author_facet	Federica Marra Paola Lunetti Rosita Curcio Francesco Massimo Lasorsa Loredana Capobianco Vito Porcelli Vincenza Dolce Giuseppe Fiermonte Pasquale Scarcia
author_sort	Federica Marra
title	An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases
title_short	An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases
title_full	An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases
title_fullStr	An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases
title_full_unstemmed	An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases
title_sort	overview of mitochondrial protein defects in neuromuscular diseases
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/32d8e5b4944a4c479666fbc332831895
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An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases

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