Mitochondria and its related diseases genetics of.doc

 PAGE \* MERGEFORMAT 22 Mitochondria and its related diseases genetics of Of: Qi Jing Song Yuguo research Huozheng Hao Yang Ze Lei phase [Keywords:] mitochondrial DNA mutations in disease Mitochondria are widely distributed in various eukaryotic cells, its main function is through the respiratory chain (electron transport chain and oxidative phosphorylation system) to provide energy for cell activities, and participate in a number of important metabolic pathways, the maintenance of cell calcium, iron ion homeostasis , and in other life activities of signal transduction. In addition, mitochondrial reactive oxygen species also (reactiveoxygen species, ROS) generation and apoptosis [1-3]. Composed of 1,000 kinds of mitochondrial proteins, in addition to respiratory chain complex proteins by mtDNA and nuclear genes encoding the double, the other protein encoded by nuclear genes. mtDNA mutations or nuclear gene mutations can cause mitochondrial dysfunction [1,4]. Back in 1963, Nass and others to find the genetic material DNA in the presence of .1981, Anderson and other published human mtDNA sequences In 1988, Holt and Wallace were in the mitochondrial encephalopathy, and Leber’s hereditary optic neuropathy (LHON) in patients with mtDNA mutations were found in cells, from opening up of mtDNA mutations and human diseases, a new area. With the mtDNA of research, people mtDNA mutations and human diseases associated increased attention. Finnish population data from a single point mutation (3243Agt; G) ratio of 1:6000, however, that the British information or the prevalence of mtDNA disease susceptible ratio of 1:3500 [5]. animal models and human studies have demonstrated the evidence, mtDNA mutation that causes the disease, many factors, some genetic diseases and the aging of the important reasons. This will include the following aspects of mtDNA described mutations and associated diseases. 1, the genetics of mitochondrial DNA Mitochondrial DNA is pre