Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome.
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.
Department of Anesthesiology, Hospital for Special Surgery, New York, NY, USA. schlame@hotmail.com
Michael
M
Schlame
Jeffrey A
JA
Towbin
Paul M
PM
Heerdt
Roswitha
R
Jehle
Salvatore
S
DiMauro
Thomas J J
TJ
Blanck
D000293:Adolescent; D000328:Adult; D000368:Aged; D000818:Animals; D001792:Blood Platelets / Q000378:metabolism; D002308:Cardiolipins / Q000096:biosynthesis / Q000378:metabolism*; D002460:Cell Line; D002648:Child; D002675:Child, Preschool; D004285:Dogs; D005260:Female; D006801:Humans; D007223:Infant; D019787:Linoleic Acid / Q000378:metabolism*; D008297:Male; D051379:Mice; D008809:Mice, Inbred C3H; D008875:Middle Aged; D008929:Mitochondria, Heart / Q000378:metabolism; D017240:Mitochondrial Myopathies / Q000378:metabolism*; D018482:Muscle, Skeletal / Q000378:metabolism; D009206:Myocardium / Q000378:metabolism; D051381:Rats; D017207:Rats, Sprague-Dawley
D002308:Cardiolipins; D019787:Linoleic Acid