Objective To evaluate the role of nicotinamide-adenine dinudeotid-dehydrogenase subunit 1 (ND1)gene m.3700G>A mutation for mitochondrial disease,especially Leber's hereditary optic neuropathy. Methods Mitochondrial adenosine triphosphate(ATP) generation,respiratory chain complex activity and steady state level and the level of reactive oxygen species (ROS) were determined in cybrids with m.3700G and m.3700A. Results Mitochondrial oxidative phosphorylation complex Ⅰ was not affected in cells with mutation of m.3700G>A. Mitochondrial ATP generation and the level of ROS were not affected as well. Conclusions The mutation of m.3700G>A might not be related with mitochondrial disease. Therefore,the screening of m.3700G>A mutation is not advised.%目的 探讨线粒体还原型烟酰胺腺嘌呤二核苷酸-脱氢酶亚基1(ND1)基因m.3700G>A突变在线粒体疾病,尤其是Leber遗传性视神经病发生中的作用.方法 分别构建含m.3700G以及m.3700A碱基的胞质融合细胞各2株.通过测定线粒体内三磷酸腺苷(ATP)生成、呼吸链复合体酶活性以及酶复合体含量、线粒体内活性氧分子(ROS)的变化评估m.3700G>A变异对线粒体功能的影响.结果 m.3700G>A并不影响线粒体氧化磷酸化复合体Ⅰ的功能,相应的线粒体ATP生成以及ROS均不受影响.结论 m.3700G>A变异并非线粒体疾病发生的致病突变位点,该突变位点不应列为线粒体疾病基因检测的筛查位点.
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