Review
Cardiolipin remodeling in Barth syndrome and other hereditary cardiomyopathies

https://doi.org/10.1016/j.bbadis.2020.165803Get rights and content
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Highlights

  • Cardiolipin is a phospholipid found in the inner mitochondrial membrane and involved in ATP production and metabolism.

  • Defects in cardiolipin biosynthesis are associated with defects in intracellular signaling pathways, mitophagy and apoptosis.

  • Barth syndrome is an inherited cardiomyopathy caused by a defect in cardiolipin biosynthesis.

  • Dilated cardiomyopathy with ataxia and Sengers syndrome are caused by defective cardiolipin biosynthesis.

Abstract

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).

Abbreviations

BTHS
Barth syndrome
CL
cardiolipin
DCMA
dilated cardiomyopathy with ataxia
IM
inner mitochondrial membrane
IMS
intermembrane space
KD
knockdown
KO
knockout
OM
outer mitochondrial membrane
PE
phosphatidylethanolamine
PA
phosphatidic acid
TAZ
tafazzin gene in humans
Taz
tafazzin gene in Mus musculus and Drosophila melanogaster

Keywords

Mitochondria
Cardiolipin
Respiratory chain
Barth syndrome
Sengers syndrome
Dilated cardiomyopathy with ataxia
Mitochondriopathies

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