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线粒体脑肌病伴乳酸血症和卒中样发作(mito-chondrial encephalomyopathies with lactic acidosis andstroke-like episodes,MELAS)是一种以线粒体脑肌病、酸中毒、卒中样发作为主要表现的进展性神经系统遗传病,部分病人还可伴有糖尿病、听力损害等多系统病变。目前尚无有关发病率和患病率的统计学资料,但在临床工作中此类病人时有所见。国外线粒体分子流行病学研究显示,美国成年人线粒体 mtDNA3243位点突变频率为16.3/100,000,芬兰成年人中突变频率为10.2/100,000。各色人种均可发病,性别无明显差异。本病为非孟德尔母系遗传,大多数患者为 mtDNA
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is a progressive neurological system characterized by mitochondrial encephalomyopathy, acidosis and stroke-like episodes Genetic disease, some patients may also be associated with diabetes, hearing loss and other multiple lesions. There is currently no statistical data on morbidity and prevalence, but these are seen in clinical practice. Foreign mitochondrial molecular epidemiological studies have shown that the frequency of mitochondrial DNA mtDNA3243 locus mutation was 16.3 / 100,000 in adults of the United States, and the frequency of mutations in adult Finnish adults was 10.2 / 100,000. All kinds of races can be onset, no significant gender differences. The disease is non-Mendelian maternally inherited, most patients with mtDNA