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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。
Objective To investigate the role of m.3700G> A mutation of mitochondrial-reduced nicotinamide adenine dinucleotide-dehydrogenase subunit 1 (ND1) gene in mitochondrial diseases, especially Leber’s hereditary optic neuropathy. Methods Two cytoplasmic fusion cells containing m.3700G and m.3700A bases were constructed. The effects of m.3700G> A variation on mitochondrial function were evaluated by determining ATP content in mitochondria, enzyme activity of respiratory chain complex, enzyme complex content and reactive oxygen species (ROS) in mitochondria. Results m.3700G> A did not affect the function of mitochondrial oxidative phosphorylation complex Ⅰ, and the corresponding mitochondrial ATP production and ROS were not affected. Conclusion m.3700G> A mutation is not a pathogenic mutation in mitochondrial disease and should not be included as a screening site for genetic testing of mitochondrial diseases.