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J. Lipid Res.
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A more recent version of this article appeared on October 1, 2006

Papers In Press, published online ahead of print July 27, 2006
J. Lipid Res., doi:10.1194/jlr.D600024-JLR200
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Submitted on June 7, 2006
Revised on July 26, 2006
Accepted on July 27, 2006

Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth syndrome

Michiel Adriaan van Werkhoven, David Ross Thorburn, Agi Kyra Gedeon, and James Jonathon Pitt

Metabolic Lab., Genetic Health Services Victoria, Melbourne, VIC 3052

Corresponding Author: james.pitt{at}ghsv.org.au

Barth Syndrome (BTHS) is an X-linked recessive disorder that results in abnormal metabolism of the mitochondrial phosholipid cardiolipin (CL). Cardiolipins are decreased and monolysocardiolipins (MLCLs), intermediates in CL metabolism, are increased in a variety of tissues. Measurement of decreased CL levels in skin fibroblasts has previously been proposed as a diagnostic test for BTHS. We investigated whether elevated MLCL is specific for BTHS and if the MLCL over CL ratio is a more sensitive and specific marker for BTHS. We measured CLs and MLCLs in skin fibroblasts from 5 BTHS patients, 8 controls and 14 patients with similar biochemical and clinical findings as BTHS (group D), using high performance liquid chromatography-mass spectrometry. Our results showed a clear decrease of CL in combination with a marked increase of MLCL in fibroblasts from BTHS patients when compared to controls. MLCL/CL ratios ranged from 0.03-0.12 in control fibroblasts and from 5.41-13.83 in BTHS fibroblasts. In group D, the MLCL/CL ratio range was 0.02-0.06. We therefore conclude that elevations of MLCLs are specific for BTHS and the MLCL/CL ratio in fibroblasts is a better diagnostic marker than CL alone. We also report the finding of 2 novel mutations in the TAZ gene causing BTHS.


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