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线粒体DNA(mtDNA)或核DNA突变可造成线粒体结构形态或(和)功能发生异常,由此导致的以神经肌肉系统(脑和肌肉组织)受累为主的多系统疾病,称为线粒体脑肌病。mtDNA突变是导致神经肌肉系统发生病变的重要原因之一。早在上世纪70年代,有研究者在患有脑肌病儿童的肌肉组织中首次发现了线粒体形态的畸变和呼吸链功能的缺陷,提示线粒体功能异常可能与该疾病有关[1]。1988年,Holt等[2]首先报
Mitochondrial DNA (mtDNA) or nuclear DNA mutations can cause structural abnormalities in mitochondrial structure (or function), resulting in the involvement of the neuromuscular system (brain and muscle tissue) -based multisystem disease known as mitochondrial encephalomyopathy . Mutation of mtDNA is one of the important reasons leading to neuromuscular diseases. As early as the 1970s, some researchers discovered the defects of mitochondrial morphology and respiratory chain function in the muscle tissue of children with encephalomyopathy, suggesting that abnormal mitochondrial function may be related to the disease [1]. In 1988, Holt et al [2] first reported