【摘要】 线粒体脑肌病伴乳酸中毒及卒中样发作(MELAS)是一种最为常见的线粒体脑肌病。因其临床表现具有高度异质性,故该病的分子机制日益受到人们的重视。本文以最为常见的线粒体DNA(mtDNA)A3243G点突变为例,就MELAS综合征的分子生物学基础、检测手段以及新近的研究进展做一概述。更多还原

【Abstract】 MELAS syndrome(mitochondrial myopathy encephalophathy with lactic acidosis and stroke-like episodes),as one of the most common diseases in mitochondrial encephalomyopathies,is characterized by highly variable manifestations.So,more and more people come to realize the importance of molecular basis of MELAS.This review took the commonest mtDNA point mutation(A3243G) for example to overview its molecular biological mechanism,test strategy and recent progress of study on MELAS syndrome.更多还原