Valianpour Fredoen, Wanders Ronald J A, Overmars Henk, Vreken Peter, Van Gennip Albert H, Baas Frank, Plecko Barbara, Santer Rene, Becker Kolja, Barth Peter G
Department of Clinical Chemistry, the Department of Pediatrics, Emma Children's Hospital, and Laboratory Neurozintuigen, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
J Pediatr. 2002 Nov;141(5):729-33. doi: 10.1067/mpd.2002.129174.
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.
我们测定了5例患有X连锁型心肌骨骼肌病和中性粒细胞减少症（Barth综合征，MIM 302060）患者以及两组对照患者的培养皮肤成纤维细胞中的心磷脂浓度。采用高效液相色谱 - 电喷雾质谱法对培养皮肤成纤维细胞中的总心磷脂和心磷脂分子种类的亚类进行定量。与正常对照患者和疾病对照患者相比，Barth综合征患者的总心磷脂和心磷脂亚类减少。Barth综合征患者各种心磷脂分子种类有特异性减少，主要是四烯酰 - 心磷脂。因此，对成纤维细胞中心磷脂的分析提供了一种检测该疾病的特异性生化方法。
