Cardiolipin remodeling in Barth syndrome and other hereditary cardiomyopathies.
Animals
Barth Syndrome
/ genetics
Biological Transport
Cardiolipins
/ metabolism
Cardiomyopathies
/ genetics
Cardiomyopathy, Dilated
/ genetics
Cataract
/ genetics
Cerebellar Ataxia
/ genetics
Electron Transport
/ genetics
Humans
Metabolism, Inborn Errors
/ genetics
Mitochondria
/ metabolism
Mitochondrial Dynamics
/ genetics
Mitochondrial Membranes
/ chemistry
Mitochondrial Proteins
/ genetics
Mitophagy
/ genetics
Myocardium
/ metabolism
Phosphatidic Acids
/ metabolism
Barth syndrome
Cardiolipin
Dilated cardiomyopathy with ataxia
Mitochondria
Mitochondriopathies
Respiratory chain
Sengers syndrome
Journal
Biochimica et biophysica acta. Molecular basis of disease
ISSN: 1879-260X
Titre abrégé: Biochim Biophys Acta Mol Basis Dis
Pays: Netherlands
ID NLM: 101731730
Informations de publication
Date de publication:
01 08 2020
01 08 2020
Historique:
received:
17
10
2019
revised:
19
12
2019
accepted:
13
04
2020
pubmed:
30
4
2020
medline:
5
1
2021
entrez:
30
4
2020
Statut:
ppublish
Résumé
Mitochondria play a prominent role in cardiac energy metabolism, and their function is critically dependent on the integrity of mitochondrial membranes. Disorders characterized by mitochondrial dysfunction are commonly associated with cardiac disease. The mitochondrial phospholipid cardiolipin directly interacts with a number of essential protein complexes in the mitochondrial membranes including the respiratory chain, mitochondrial metabolite carriers, and proteins critical for mitochondrial morphology. Barth syndrome is an X-linked disorder caused by an inherited defect in the biogenesis of the mitochondrial phospholipid cardiolipin. How cardiolipin deficiency impacts on mitochondrial function and how mitochondrial dysfunction causes cardiomyopathy has been intensively studied in cellular and animal models of Barth syndrome. These findings may also have implications for the molecular mechanisms underlying other inherited disorders associated with defects in cardiolipin, such as Sengers syndrome and dilated cardiomyopathy with ataxia (DCMA).
Identifiants
pubmed: 32348916
pii: S0925-4439(20)30148-4
doi: 10.1016/j.bbadis.2020.165803
pii:
doi:
Substances chimiques
Cardiolipins
0
Mitochondrial Proteins
0
Phosphatidic Acids
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
165803Informations de copyright
Copyright © 2020 Elsevier B.V. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.