Mecp2影响Rett综合征中代谢功能的研究进展

Rett综合征(RTT)是一种由X连锁的甲基CpG结合蛋白2(Mecp2)基因突变引起的神经系统疾病,突变致病的具体调节机制尚不清楚.对RTT的研究大多聚焦在中枢神经系统,越来越多的研究显示Mecp2在各种代谢系统中也发挥着重要作用.回顾了RTT发展历史、Mecp2的发现及主要作用,并综述了MeCP2在脂质代谢、线粒体...

Research Progress of Mecp2 Affecting Metabolic Function in Rett Syndrome

Rett syndrome(RTT)is a neurological disease caused by mutations in the X-linked gene methyl CpG binding protein 2(Mecp2).RTT occurs mostly in girls,but the mechanism that Mecp2 mutations caused RTT symptoms is largely unknown.The recent studies of RTT mostly focus on the role that Mecp2 plays in the central nervous system.This article reviews the development history of RTT,the discovery and main effects of Mecp2,and then discusses the research progress of Me CP2 in lipid metabolism,mitochondrial metabolism,and autophagy.Overall,Mecp2 mutations can affect cholesterol and fat metabolism in patients and lead to body obesity and liver dysfunction;the morphology and function mitochondrial changes and the disorders of autophagy occur.Because of the above metabolic disorders,the quality of life of RTT patients is seriously reduced.These findings provide a theoretical basis for exploring the mechanism of RTT deeply and screening possible therapeutic targets.