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.
Schlame
Michael
M
Department of Anesthesiology, Hospital for Special Surgery, New York, NY, USA. schlame@hotmail.com
Towbin
Jeffrey A
JA
Heerdt
Paul M
PM
Jehle
Roswitha
R
DiMauro
Salvatore
S
Blanck
Thomas J J
TJ
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