与MELAS综合征相关的线粒体基因异质性研究进展

Mitochondrial gene heterogeneity related to MELAS syndrome:A review of literature

MELAS综合征是一种由线粒体DNA(mitochondrial DNA,mtDNA)或核DNA突变引起的遗传性疾病,约80%的病例是由m.3243A>G突变导致线粒体功能障碍而引起的。当细胞中同时存在正常和突变的mtDNA,即为异质性,其与MELAS综合征的严重程度关系复杂。本文将系统阐述与MELAS综合征相关的mtDNA异质性的研究,以期为MELAS综合征的诊疗提供新的思路。

MELAS syndrome is a genetic disease caused by mutations in mitochondrial DNA(mtDNA)or nuclear DNA.Eighty percent of the cases are caused by m.3243A>G mutation.Heteroplasmy,defined as the presence of both normal and mutant mtDNA in cells,is related with the severity of MELAS syndrome.This article reviews the research in mtDNA heterogeneity related to MELAS syndrome,aiming to provide an insight into new therapies for the syndrome.