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. 2017 Mar 15;113(4):399-410.
doi: 10.1093/cvr/cvx014. Epub 2017 Feb 2.

Barth syndrome cardiomyopathy

Jan Dudek  1 , Christoph Maack  2
Affiliations

Barth syndrome cardiomyopathy

Jan Dudek et al. Cardiovasc Res. .

Abstract

Barth syndrome (BTHS) is an inherited form of cardiomyopathy, caused by a mutation within the gene encoding the mitochondrial transacylase tafazzin. Tafazzin is involved in the biosynthesis of the unique phospholipid cardiolipin (CL), which is almost exclusively found in mitochondrial membranes. CL directly interacts with a number of essential protein complexes in the mitochondrial membranes including the respiratory chain, mitochondrial metabolite carriers, and proteins, involved in shaping mitochondrial morphology. Here we describe, how in BTHS CL deficiency causes changes in the morphology of mitochondria, structural changes in the respiratory chain, decreased respiration, and increased generation of reactive oxygen species. A large number of cellular and animal models for BTHS have been established to elucidate how mitochondrial dysfunction induces sarcomere disorganization and reduced contractility, resulting in dilated cardiomyopathy in vivo.

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