title: Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts.
abstract: 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.
authors.affiliation: Department of Clinical Chemistry, the Department of Pediatrics, Emma Children's Hospital, and Laboratory Neurozintuigen, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Fredoen
authors.initials: F
authors.lastname: Valianpour
authors.forename: Ronald J A
authors.initials: RJ
authors.lastname: Wanders
authors.forename: Henk
authors.initials: H
authors.lastname: Overmars
authors.forename: Peter
authors.initials: P
authors.lastname: Vreken
authors.forename: Albert H
authors.initials: AH
authors.lastname: Van Gennip
authors.forename: Frank
authors.initials: F
authors.lastname: Baas
authors.forename: Barbara
authors.initials: B
authors.lastname: Plecko
authors.forename: Rene
authors.initials: R
authors.lastname: Santer
authors.forename: Kolja
authors.initials: K
authors.lastname: Becker
authors.forename: Peter G
authors.initials: PG
authors.lastname: Barth
mesh_terms: 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
chemical_list: D002308:Cardiolipins; D011506:Proteins; D014157:Transcription Factors; D000217:Acyltransferases; C108675:TAFAZZIN protein, human