Barth syndrome, a human disorder of cardiolipin metabolism

FEBS Lett. 2006 Oct 9;580(23):5450-5. doi: 10.1016/j.febslet.2006.07.022. Epub 2006 Jul 17.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Cardiolipins / chemistry
  • Cardiolipins / metabolism*
  • Genetic Diseases, X-Linked / etiology
  • Genetic Diseases, X-Linked / genetics
  • Genetic Diseases, X-Linked / metabolism*
  • Humans
  • Mitochondria / metabolism
  • Syndrome
  • Transcription Factors / genetics
  • Transcription Factors / metabolism


  • Cardiolipins
  • Transcription Factors