Barth syndrome, a human disorder of cardiolipin metabolism.
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.
Schlame
Michael
M
Department of Anesthesiology, New York University School of Medicine, 550 First Avenue, New York, NY 10016, USA. michael.schlame@med.nyu.edu
Ren
Mindong
M
D000818:Animals; D002308:Cardiolipins / Q000737:chemistry / Q000378:metabolism*; D040181:Genetic Diseases, X-Linked / Q000209:etiology / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D008928:Mitochondria / Q000378:metabolism; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
D002308:Cardiolipins; D014157:Transcription Factors