Abstract: 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.

Key words: mtDNA; mitochondriopathy; genetic mutation; gene expression