Premium
Deficiency of tetralinoleoyl‐cardiolipin in Barth syndrome
Author(s) -
Schlame Michael,
Towbin Jeffrey A.,
Heerdt Paul M.,
Jehle Roswitha,
DiMauro Salvatore,
Blanck Thomas J. J.
Publication year - 2002
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10176
Subject(s) - cardiolipin , skeletal muscle , ventricle , medicine , mitochondrion , endocrinology , phospholipid , mitochondrial myopathy , biology , gene , biochemistry , mitochondrial dna , membrane
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.