Genetic aspects of the oxidative phosphorylation dysfunction in dilated cardiomyopathy.
Dilated cardiomyopathy
Mitochondrial DNA
Mitochondrial biogenesis
Oxidative phosphorylation
Pathogenicity criteria
Pathologic mutation
Journal
Mutation research. Reviews in mutation research
ISSN: 1388-2139
Titre abrégé: Mutat Res Rev Mutat Res
Pays: Netherlands
ID NLM: 101632211
Informations de publication
Date de publication:
Historique:
received:
22
03
2020
revised:
19
08
2020
accepted:
20
08
2020
entrez:
19
12
2020
pubmed:
20
12
2020
medline:
4
2
2021
Statut:
ppublish
Résumé
Dilated cardiomyopathy is a frequent and extremely heterogeneous medical condition. Deficits in the oxidative phosphorylation system have been described in patients suffering from dilated cardiomyopathy. Hence, mutations in proteins related to this biochemical pathway could be etiological factors for some of these patients. Here, we review the clinical phenotypes of patients harboring pathological mutations in genes related to the oxidative phosphorylation system, either encoded in the mitochondrial or in the nuclear genome, presenting with dilated cardiomyopathy. In addition to the clinical heterogeneity of these patients, the large genetic heterogeneity has contributed to an improper allocation of pathogenicity for many candidate mutations. We suggest criteria to avoid incorrect assignment of pathogenicity to newly found mutations and discuss possible therapies targeting the oxidative phosphorylation function.
Identifiants
pubmed: 33339579
pii: S1383-5742(20)30054-5
doi: 10.1016/j.mrrev.2020.108334
pii:
doi:
Substances chimiques
DNA, Mitochondrial
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
108334Informations de copyright
Copyright © 2020 Elsevier B.V. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of Competing Interest The authors report no declarations of interest.