Journal
FEBS LETTERS
Volume 580, Issue 23, Pages 5450-5455Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.febslet.2006.07.022
Keywords
cardiomyopathy; fatty acid; mitochondrial disease; phospholipids; skeletal muscle; tafazzin
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Barth syndrome is an X-linked recessive disease caused by mutations in the tafazzin gene. Patients have reduced concentration and altered composition of cardiolipin, the specific mitochondrial phospholipid, and they have variable clinical findings, often including heart failure, myopathy, neutropenia, and growth retardation. This article provides an overview of the molecular basis of Barth syndrome. It is argued that tafazzin, a phospholipid acyltransferase, is involved in acyl-specific remodeling of cardiolipin, which promotes structural uniformity and molecular symmetry among the cardiolipin molecular species. Inhibition of this pathway leads to changes in mitochondrial architecture and function. (c) 2006 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved.
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