9 线粒体遗传病.pptVIP

人类线粒体性疾病 1962/抑或1959年，首次发现了线粒体病的病例。真正将线粒体病与 mtDNA 突变联系起来的是Holt, Wallace。1987年 在人类中，已知许多因线粒体DNA的改变而导致的疾病。主要表现在脑、肌肉、心脏、肝脏等以线粒体代谢为主要能量来源的器官。 临床表现型不直接与mtDNA基因型有关，取决于 mtDNA 突变的积累、突变 mtDNA 的比例、氧化磷酸化的特异组织需要，以及年龄等。 线粒体性细胞病主要表现为母性遗传。但由于细胞中含不同比例的受累线粒体。经反复细胞分裂后，受累线粒体的比例有所改变，造成线粒体性疾病具有显著的变异性。 Mitochondrial disease has an incidence from 1:10.000 to 1:4000. They affect most energy demanding tissues, like central nervous system, heart skeletal muscle. But this is not always the case. For example in mitochondrial diabetes and liver and kidney disease. Mitochondrial diseases are specific, but can have highly variable clinical features with various gene defects. Mitochondrial disease has an incidence from 1:10.000 to 1:4000. They affect most energy demanding tissues, like central nervous system, heart skeletal muscle. But this is not always the case. For example in mitochondrial diabetes and liver and kidney disease. Mitochondrial diseases are specific, but can have highly variable clinical features with various gene defects. Many mitochondrial diseases have been associated with mutations on the mt genome. For example several mitochondrial syndromes in which hearing loss is one of the symptoms or diabetes. DEAF, Maternally inherited DEAFness or aminoglycoside-induced DEAFness In this picture is also shown a typical sporadic deletion for KSS, Kearns Sayre Syndrome and Pearson syndrome of 4977bp MERRF, Myoclonic Epilepsy and Ragged Red Muscle FibersMELAS, Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodesMILS, Maternally Inherited Leigh Syndrome Leber遗传性视神经病变（Leberˊs hereditary optic neuropathy）简称Leber病，由Theoder Leber于1871年首先报道。是一种比较少见的遗传性视神经病。有明显家族史。患者多为男性 Wallace 1995年获得美国科学院院士 ，2001年~现在 北京师范大学客座教授 ——2004,2009讲座 Wallace突变 脑中风的学名，是一种突然起病的脑血液循环障碍性疾病 心传导阻滞 Leber遗传性视神经病家系之一 Leber遗传性视神经病家系之二 MERRF综合症(MIM545000 ) 肌阵挛性癫痫伴碎红纤维病 (Myoclonic Epilepsy with Ragged Red Fibers ) 多系统紊乱，肌阵挛性癫痫，呼吸异常，轻度痴呆，耳聋，脊髓退化。大量团块状线粒体聚集于肌细