Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Valianpour, F; Wanders, RJ; Overmars, H; Vreken, P; Van Gennip, AH; Baas, F; Plecko, B; Santer, R; Becker, K; Barth, PG.
Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts.
J Pediatr. 2002; 141(5):729-733
Doi: 10.1067/mpd.2002.129174
Web of Science
PubMed
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- Co-Autor*innen der Med Uni Graz
- Plecko Barbara
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- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Adolescent -
- Cardiolipins - analysis
- Cardiomyopathy, Dilated - genetics
- Child -
- Chromatography, High Pressure Liquid -
- Fibroblasts - chemistry
- Genetic Diseases, X-Linked -
- Humans -
- Infant -
- Mutation -
- Neutropenia - genetics
- Proteins - genetics
- Syndrome -
- Transcription Factors -