细胞色素氧化酶在人体内分布十分广泛 ,它的突变与人类疾病发生有密切的关系 ,通过分析线粒体DNA编码细胞色素氧化酶亚基基因的结构特点及其突变引起的主要疾病和其临床表现 ,比较了人类常见疾病和线粒体DNA编码细胞色素氧化酶亚基基因突变位点之间的关系 ,初步探讨了线粒体DNA编码细胞色素氧化酶亚基基因突变的致病机制及药物治疗 Cytochrome oxidase is widely distributed in the human body and its mutation is closely related to human diseases. By analyzing the structural characteristics of mitochondrial DNA encoding cytochrome oxidase subunit gene and the main diseases caused by mutation and its clinical manifestations, The relationship between common human diseases and mitochondrial DNA encoding cytochrome oxidase subunit gene mutations was compared and the pathogenesis of mitochondrial DNA encoding cytochrome oxidase subunit gene mutation and drug therapy