DEFICIENCY OF ELECTRON-TRANSFER FLAVOPROTEIN OR ELECTRON-TRANSFER FLAVOPROTEIN - UBIQUINONE OXIDOREDUCTASE IN GLUTARIC ACIDEMIA TYPE-II FIBROBLASTS
DEFICIENCY OF ELECTRON-TRANSFER FLAVOPROTEIN OR ELECTRON-TRANSFER FLAVOPROTEIN - UBIQUINONE OXIDOREDUCTASE IN GLUTARIC ACIDEMIA TYPE-II FIBROBLASTS
复制标题
DOI：
10.1073/pnas.82.13.4517
复制
发表时间：
1985-01-01
影响因子：
11.1
通讯作者：
GOODMAN, SI
中科院分区：
文献类型：
--
作者：
FRERMAN, FE;GOODMAN, SI
II 型戊二酸血症 (GA II) 是一种人类遗传性疾病。这种疾病的主要缺陷可能是缺乏参与酰基辅酶A脱氢酶和线粒体呼吸链bc1复合物之间电子传递的蛋白质。抗血清针对纯化的猪电子转移黄素蛋白（ETF）和电子转移黄素蛋白：泛醌氧化还原酶（ETF：QO）而产生。使用抗血清通过免疫印迹法检测对照和GA II成纤维细胞中的2种电子转移酶。来自 3 名不相关的 GA II 患者的成纤维细胞缺乏免疫学可检测的 ETF:QO，并且这 3 名成纤维细胞系的提取物不含有可检测的 ETF:QO 催化活性。其中 2 名患者的父母的成纤维细胞的 ETF:QO 活性介于对照成纤维细胞和患者成纤维细胞的活性之间。这些患者的主要缺陷是 ETF:QO 缺乏，并且该基因的传播方式是常染色体隐性遗传。来自另外 2 名严重 GA II 患者的成纤维细胞具有正常水平的 ETF-QO 活性和抗原，但缺乏免疫反应性 ETF。 GA II 是由某些患者缺乏 ETF 和其他患者缺乏 ETF:QO 引起的。这些研究为铁硫黄素蛋白 ETF:QO 的特异性和生理功能提供了有力的证据。
Glutaric acidemia type II (GA II) is a human genetic disorder. The primary defect in this disorder may be a deficiency of a protein involved in electron transport between the acyl-CoA dehydrogenases and the bc1 complex of the mitochondrial respiratory chain. Antisera were raised to purified porcine electron transfer flavoprotein (ETF) and electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO). The antisera were used to detect the 2 electron transferases in control and GA II fibroblasts by immunoblotting. Fibroblasts from 3 unrelated GA II patients were deficient in immunologically detectable ETF:QO and extracts from these 3 fibroblast lines contained no detectable ETF:QO catalytic activity. Fibroblasts from parents of 2 of these patients had ETF:QO activity intermediate between activities in control fibroblasts and fibroblasts from the patients. The primary defect in these patients is deficiency of ETF:QO and that the mode of transmission of the gene is autosomal recessive. Fibroblasts from 2 other patients with severe GA II had normal levels of ETF-QO activity and antigen but were deficient in immunoreactive ETF. GA II results from a deficiency of ETF in some patients and ETF:QO in others. These investigations provide strong evidence for the specificity and physiological function of the iron-sulfur flavoprotein ETF:QO.