Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts.
We determined cardiolipin concentrations in cultured skin fibroblasts of 5 patients with X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060) and in two groups of control patients. High-performance liquid chromatography-electrospray mass spectrometry was used to quantify total cardiolipin and subclasses of cardiolipin molecular species in cultured skin fibroblasts. Total cardiolipin and cardiolipin subclasses were decreased in patients with Barth syndrome as compared with normal control patients and disease control patients. Patients with Barth syndrome have a specific decrease of various cardiolipin molecular species, foremost tetralineoyl-cardiolipin. Therefore the analysis of cardiolipin in fibroblasts offers a specific biochemical approach to detect this disorder.
Valianpour
Fredoen
F
Department of Clinical Chemistry, the Department of Pediatrics, Emma Children's Hospital, and Laboratory Neurozintuigen, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Wanders
Ronald J A
RJ
Overmars
Henk
H
Vreken
Peter
P
Van Gennip
Albert H
AH
Baas
Frank
F
Plecko
Barbara
B
Santer
Rene
R
Becker
Kolja
K
Barth
Peter G
PG
D000217:Acyltransferases; D000293:Adolescent; D002308:Cardiolipins / Q000032:analysis*; D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D002648:Child; D002851:Chromatography, High Pressure Liquid; D005347:Fibroblasts / Q000737:chemistry*; D040181:Genetic Diseases, X-Linked; D006801:Humans; D007223:Infant; D009154:Mutation; D009503:Neutropenia / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D013577:Syndrome; D014157:Transcription Factors
D002308:Cardiolipins; D011506:Proteins; D014157:Transcription Factors; D000217:Acyltransferases; C108675:TAFAZZIN protein, human