Mitochondrial functions and rare diseases.
Bioenergetics
Iatrogeny
Mitochondria
REDOX
Rare diseases
Journal
Molecular aspects of medicine
ISSN: 1872-9452
Titre abrégé: Mol Aspects Med
Pays: England
ID NLM: 7603128
Informations de publication
Date de publication:
02 2020
02 2020
Historique:
received:
03
10
2019
revised:
26
12
2019
accepted:
27
12
2019
pubmed:
8
2
2020
medline:
9
2
2021
entrez:
8
2
2020
Statut:
ppublish
Résumé
Mitochondria are dynamic cellular organelles responsible for a large variety of biochemical processes as energy transduction, REDOX signaling, the biosynthesis of hormones and vitamins, inflammation or cell death execution. Cell biology studies established that 1158 human genes encode proteins localized to mitochondria, as registered in MITOCARTA. Clinical studies showed that a large number of these mitochondrial proteins can be altered in expression and function through genetic, epigenetic or biochemical mechanisms including the interaction with environmental toxics or iatrogenic medicine. As a result, pathogenic mitochondrial genetic and functional defects participate to the onset and the progression of a growing number of rare diseases. In this review we provide an exhaustive survey of the biochemical, genetic and clinical studies that demonstrated the implication of mitochondrial dysfunction in human rare diseases. We discuss the striking diversity of the symptoms caused by mitochondrial dysfunction and the strategies proposed for mitochondrial therapy, including a survey of ongoing clinical trials.
Identifiants
pubmed: 32029308
pii: S0098-2997(19)30117-7
doi: 10.1016/j.mam.2019.100842
pii:
doi:
Substances chimiques
Mitochondrial Proteins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
100842Informations de copyright
Copyright © 2020 Elsevier Ltd. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of competing interest The authors declare no conflict of interest.