中国当代儿科杂志2026，Vol.28Issue(6)：772-779,8.DOI:10.7499/j.issn.1008-8830.2510107
核基因突变导致儿童线粒体心肌病的分子遗传学研究进展
Advances in the molecular genetics of nuclear gene mutations causing pediatric mitochondrial cardiomyopathy
摘要
Abstract
Mitochondrial cardiomyopathy(MCM)is a heterogeneous group of disorders characterized by abnormal myocardial structure and/or function caused by defects in genes encoding the oxidative phosphorylation chain.This review systematically summarizes molecular genetic advances regarding nuclear gene mutations associated with pediatric MCM,focusing on mutations affecting pathways including respiratory chain complex subunits and assembly factors,coenzyme Q10 biosynthesis,mitochondrial DNA maintenance and expression,lipid metabolism,iron-sulfur cluster metabolism,apoptosis regulation,and mitochondrial dynamics.These nuclear gene mutations contribute to myocardial pathological changes by disrupting key processes such as mitochondrial energy metabolism,membrane stability,and signal transduction.The review provides a theoretical basis for precise clinical diagnosis and the exploration of potential molecular targets in pediatric MCM.关键词
线粒体心肌病/核基因/氧化磷酸化/突变/儿童Key words
Mitochondrial cardiomyopathy/Nuclear gene/Oxidative phosphorylation/Mutation/Child引用本文复制引用
王子威,王钰琪,王春莉,杨世伟..核基因突变导致儿童线粒体心肌病的分子遗传学研究进展[J].中国当代儿科杂志,2026,28(6):772-779,8.基金项目
江苏省自然科学基金面上项目(BK20251732) （BK20251732）
南京市卫生科技发展项目重点项目(ZKX24038). （ZKX24038）
