Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome.

TitleDeficiency of tetralinoleoyl-cardiolipin in Barth syndrome.
Publication TypeJournal Article
Year of Publication2002
AuthorsSchlame M, Towbin JA, Heerdt PM, Jehle R, DiMauro S, Blanck TJJ
JournalAnn Neurol
Date Published2002 May
KeywordsAdolescent, Adult, Aged, Animals, Blood Platelets, Cardiolipins, Cell Line, Child, Child, Preschool, Dogs, Female, Humans, Infant, Linoleic Acid, Male, Mice, Mice, Inbred C3H, Middle Aged, Mitochondria, Heart, Mitochondrial Myopathies, Muscle, Skeletal, Myocardium, Rats, Rats, Sprague-Dawley

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.

Alternate JournalAnn. Neurol.
PubMed ID12112112
Grant ListGM50686 / GM / NIGMS NIH HHS / United States