中文摘要：

以线粒体结构和功能缺陷为主要病因的疾病常称为线粒体病,主要指线粒体基因变化所致的疾病。mtDNA基因表达受众多因素调控,存在多个突变位点,其发生突变的概率很大。基因突变和基因表达异常可影响细胞对氧的利用,与一系列病理生理过程密切相关,故而mtDNA被认为与疾病的发生有密切关系。文章主要对近年来线粒体所致疾病与mtDNA相关变化的研究进展作一综述。

英文摘要：

To study the relations of mtDNA veriation and the mitochondriopathy.The case of mitochondriopathy is the structure and functional of mitochondria be defected.And the concept of mitochondriopathy is the disease that made by mtDNA variation.The mtDNA has a lot of existence mutable sites,gene expressing being controlled by multifactor,and the probability of mutational is tremendous.Genetic mutation and the anomalism of gene expression influence the cell utilize the oxygen,and relevanting closed with the pathophysiology of body,so the mtDNA is relation with the morbid nosogenesis.