Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome.

Abstract

Barth syndrome is an X-linked cardiac and skeletal mitochondrial myopathy. Barth syndrome may be due to lipid alterations because the product of the mutated gene is homologous to phospholipid acyltransferases. Here we document that a single mitochondrial phospholipid species, tetralinoleoyl-cardiolipin, was lacking in the skeletal muscle (n = 2), right ventricle (n = 2), left ventricle (n = 2), and platelets (n = 6) of 8 children with Barth syndrome. Tetralinoleoyl-cardiolipin is specifically enriched in normal skeletal muscle and the normal heart. These findings support the notion that Barth syndrome is caused by alterations of mitochondrial lipids.

• Authors: Michael Schlame, Jeffrey A Towbin, Paul M Heerdt, Roswitha Jehle, Salvatore DiMauro, Thomas J J Blanck
• Journal: Annals of neurology (Ann Neurol) Vol. 51 Issue 5 Pg. 634-7 (May 2002) ISSN: 0364-5134 [Print] United States
• PMID: 12112112 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Cardiolipins
• Linoleic Acid

Topics

• Adolescent
• Adult
• Aged
• Animals
• Blood Platelets (metabolism)
• Cardiolipins (biosynthesis, metabolism)
• Cell Line
• Child
• Child, Preschool
• Dogs
• Female
• Humans
• Infant
• Linoleic Acid (metabolism)
• Male
• Mice
• Mice, Inbred C3H
• Middle Aged
• Mitochondria, Heart (metabolism)
• Mitochondrial Myopathies (metabolism)
• Muscle, Skeletal (metabolism)
• Myocardium (metabolism)
• Rats
• Rats, Sprague-Dawley