Sep 16, 2006

Barth syndrome, a human disorder of cardiolipin metabolism

FEBS Letters
Michael Schlame, Mindong Ren

Abstract

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.

  • References53
  • Citations134

References

  • References53
  • Citations134

Citations

Mentioned in this Paper

Metabolic Process, Cellular
Pathogenic Aspects
Biochemical Pathway
Pathogenesis
Glycerin
Specimen Type - Fibroblasts
Neutropenia
Exons
Enzymes, antithrombotic
Coenzyme A

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