title: Linoleic acid supplementation of Barth syndrome fibroblasts restores cardiolipin levels: implications for treatment.
abstract: The object of this study was to investigate whether the levels of cardiolipin in cultured skin fibroblasts of patients with Barth syndrome (BTHS) can be restored by addition of linoleic acid to growth media. To this end, fibroblasts from controls and BTHS patients were grown in the presence or absence of linoleic acid. High-performance liquid chromatography-electrospray ionization tandem mass spectrometry was used for quantitative and compositional analysis of cardiolipin. Incubation of cells from both BTHS and controls with different concentrations of linoleic acid led to a dose- and time-dependent increase of cardiolipin levels. The increased levels of cardiolipin in fibroblasts of BTHS patients after treatment with linoleic acid indicate that an increased amount of linoleic acid in the diet might be beneficial to BTHS patients.
authors.affiliation: Academic Medical Center, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital and Department of Clinical Chemistry, PO Box 22700, 1100 DE Amsterdam, The Netherlands.
authors.forename: F
authors.initials: F
authors.lastname: Valianpour
authors.forename: R J A
authors.initials: RJ
authors.lastname: Wanders
authors.forename: H
authors.initials: H
authors.lastname: Overmars
authors.forename: F M
authors.initials: FM
authors.lastname: Vaz
authors.forename: P G
authors.initials: PG
authors.lastname: Barth
authors.forename: A H
authors.initials: AH
authors.lastname: van Gennip
mesh_terms: D000293:Adolescent; D002308:Cardiolipins / Q000378:metabolism*; D002478:Cells, Cultured; D002648:Child; D002851:Chromatography, High Pressure Liquid; D005347:Fibroblasts / Q000187:drug effects* / Q000378:metabolism* / Q000473:pathology; D040181:Genetic Diseases, X-Linked / Q000178:diet therapy / Q000188:drug therapy*; D006801:Humans; D007223:Infant; D019787:Linoleic Acid / Q000494:pharmacology* / Q000627:therapeutic use; D010715:Phosphatidylglycerols / Q000032:analysis; D021241:Spectrometry, Mass, Electrospray Ionization; D013577:Syndrome
chemical_list: D002308:Cardiolipins; D010715:Phosphatidylglycerols; D019787:Linoleic Acid