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线粒体脑肌病伴高乳酸血症及脑卒中样发作(MELAS)是在1984年前首次被提出的,该病主要是由线粒体基因组第3243号位点的腺嘌呤突变为鸟嘌呤(m.3243A>G)行导致。MELAS主要的神经系统表现为抽搐、脑卒中样发作和脑病,还包括一些其他症状如身材矮小、认知功能障碍、偏头痛、痴呆、心肌病、心脏传导阻滞和糖尿病等。本文主要从分子生物学角度讨论MELAS病的病因、诊断方式以及治疗手段的研究进展,着重阐述了细胞色素C氧化酶(COX)失调假说在MELAS病的发病机制中的作用。虽然MELAS病的治疗方法仍然有限,但是现有的和潜在的治疗方式值得探讨。
Mitochondrial encephalomyopathy with hyperlipidemia and stroke-like episodes (MELAS) was first proposed prior to 1984 and consisted primarily of adenine mutations at guanosine (position 3243) in the mitochondrial genome (m.3243A > G) line. The major neurological manifestations of MELAS are convulsions, stroke-like episodes and encephalopathies, as well as other symptoms such as short stature, cognitive impairment, migraine, dementia, cardiomyopathy, heart block and diabetes. This article mainly discusses the etiology, diagnosis and treatment of MELAS from the perspective of molecular biology, and emphatically expounds the role of cytochrome c oxidase (COX) imbalance hypothesis in the pathogenesis of MELAS. Although the treatment of MELAS is still limited, the current and potential treatment options are worth exploring.