人类与医学遗传学4、线粒体病.ppt

Mitochondrial Diseases 线粒体病 马龙 医学遗传学国家重点实验室 The structure of a mitochondria Oxidative phosphorylation and ATP synthesis occur on inner membranes The human mitochondria genome 13 proteins,, 22 transfer RNAs and two ribosomal RNAs Every 30 minutes a child is born who will develop a mitochondrial disease by age 10. At least 1 in 200 individuals in the general public have a mitochondrial DNA mutation that may lead to disease. Mitochondrial disease is a relatively newly diagnosed disease – first recognized in an adult in the 1960s and in the 1980s for pediatric onset cases. It is greatly under diagnosed and the true prevalence is difficult to determine. Research has consistently shown that mitochondrial dysfunction is at the core of many very common illnesses and chronic conditions of adulthood. These include: Alzheimer’s, Dementia, Parkinson’s disease, diabetes, hypertension, heart disease, osteoporosis, cancer and even the aging process itself. Furthermore, autoimmune disease such as multiple sclerosis, lupus and rheumatoid arthritis appear to have a mitochondria basis to illnes Mitochondrial diseases affect a large portion of human population A partial list of mitochondrial diseases Mitochondrial disorders may be caused by mutations, acquired or inherited, in mitochondrial DNA (mtDNA) or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondrial dysfunction due to adverse effects of drugs, infections, or other environmental causes. Mitochondrial diseases could be caused by multiple factors Picture of a young patient of a mitochondrial disease Mitochondrial mutations are transmitted by maternal inheritance Paternal mitochondria are marked with ubiquitin to select them for later destruction inside the embryo. Sutovsky, P., et al. (1999). Ubiquitin tag for sperm mitochondria. Nature 402 (6760): 371–372. ? MitochondriaandHumanDisease A partial list of proteins involved in mitochondrial functions Mitoch