Mitochondrial disease is a set of multi-systematic and heterogeneous disease which invades in the central nervous system and muscles tissue adequately,mainly refers to the genetic defects that causes mitochondrial structure and function defect.Mitochondrial disease occupies an important position in the human genetics.At present,the research of mitochondrial disease and the related genetic mutation has become the focus in the genetics.This review is to discuss the mitochondrial disease epidemiology,molecular biology and genetics,clinical manifestations and diagnosis.