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

VernacularTitle:与MELAS综合征相关的线粒体基因异质性研究进展
Author: Limin WEN ¹ ; Ran LI ; Yanlei HAO ; Qingxia KONG ; Min XIA
Author Information

1. 济宁医学院临床医学院(山东济宁 272067)
Keywords: MELAS syndrome; mitochondrial DNA; heteroplasmy; genetic mutation
From: The Journal of Practical Medicine 2024;40(13):1885-1888
CountryChina
Language:Chinese
Abstract: 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.