Electron transfer flavoprotein deficiency: Functional and molecular aspects
Electron transfer flavoprotein deficiency: Functional and molecular aspects
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DOI：
10.1016/j.ymgme.2006.01.009
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发表时间：
2006-06-01
影响因子：
3.8
通讯作者：
Vianey-Saban, C
中科院分区：
文献类型：
--
作者：
Schiff, M;Froissart, R;Vianey-Saban, C
多重酰基辅酶A脱氢酶缺乏症（multiple acyl-CoA dehydrogenase deficiency，MADD）是一种遗传性代谢紊乱，其病因可能是由于电子转移黄素蛋白（electron transfer flavoprotein，ETF）或其脱氢酶（ETF-ubiquinone oxidoreductase，ETF-泛醌氧化还原酶）缺乏。ETF是一种线粒体基质蛋白，由ETFA和ETFB基因分别编码的α-（30 kDa）和β-（28 kDa）亚基组成。在本研究中，我们分析了16个无关的患者与ETF缺乏症的组织样本，我们报告的ETF活动，蛋白质印迹分析和突变分析的结果。ETF检测提供了一个可靠的诊断工具，以确认FTF缺乏的患者怀疑患有MADD。活动范围从不到1%到16%的控制与最严重的影响患者披露最低的活动值。大多数患者在ETFA基因中有突变，而其中只有两个在ETFB基因中有突变。报告了9种新的致病ETF突变。(c)2006年爱思唯尔公司All rights reserved.
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a recessively inherited metabolic disorder that call be due to a deficiency of electron transfer flavoprotein (ETF) or its dehydrogenase (ETF-ubiquinone oxidoreductase). ETF is a mitochondrial matrix protein consisting of alpha- (30 kDa) and beta- (28 kDa) subunits encoded by the ETFA and ETFB genes, respectively. In the present study, we have analysed tissue samples from 16 unrelated patients with ETF deficiency, and we report the results of ETF activity, Western blot analysis and mutation analysis. The ETF assay provides a reliable diagnostic tool to confirm FTF deficiency in patients suspected to suffer from MADD. Activity ranged from less than 1 to 16% of controls with the most severely affected patients disclosing the lowest activity values. The majority of patients had mutations in the ETFA gene while only two of them harboured mutations in the ETFB gene. Nine novel disease-causing ETF mutations are reported. (c) 2006 Elsevier Inc. All rights reserved.