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An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases

An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases

Authors :
Federica Marra
Paola Lunetti
Rosita Curcio
Francesco Massimo Lasorsa
Loredana Capobianco
Vito Porcelli
Vincenza Dolce
Giuseppe Fiermonte
Pasquale Scarcia
Source :
Biomolecules, Vol 11, Iss 11, p 1633 (2021)
Publication Year :
2021
Publisher :
MDPI AG, 2021.

Abstract

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.

Details

Language :
English
ISSN :
2218273X
Volume :
11
Issue :
11
Database :
Directory of Open Access Journals
Journal :
Biomolecules
Publication Type :
Academic Journal
Accession number :
edsdoj.32d8e5b4944a4c479666fbc332831895
Document Type :
article
Full Text :
https://doi.org/10.3390/biom11111633