突触可塑性改变在脆性X综合征中的研究进展  

Recent advance in synaptic plasticity alteration in Fragile X syndrome

作　　者：亓娜 吴希 李敏[1] 黄俊宇 曾燕[1] 陈亮[1] 魏珍 Qi Na;Wu Xi;Li Min;Huang Junyu;Zeng Yan;Chen Liang;Wei Zhen(Brain Science and Advanced Technology Institute,School of Medicine,Wuhan University of Science and Technology,Wuhan 430065,China)

机构地区：[1]武汉科技大学医学部脑科学先进技术研究院,武汉430065

出　　处：《中华神经医学杂志》2024年第4期404-408,共5页Chinese Journal of Neuromedicine

基　　金：国家自然科学基金(82071272)。

摘　　要：脆性X综合征(FXS)是由脆性X综合征智力低下蛋白(FMRP)缺失引起的神经发育性突触类疾病,突触可塑性异常是造成FXS患者认知障碍、恐惧和焦虑情绪、多动、刻板行为的主要病理原因。近年来,突触可塑性在FXS中的功能研究取得突破性进展,为FXS的防治提供了新的理论基础。本文现围绕突触可塑性在FXS中的异常表现和影响因素,以及目前临床上靶向突触可塑性的FXS治疗策略进行综述,以期加深医学工作者对相关进展的了解。Fragile X syndrome(FXS)is a neurodevelopmental synaptopathy caused by loss of fragile X mental retardation protein(FMRP);abnormal synaptic plasticity is the leading pathological cause of cognitive impairment,fear and anxiety,hyperactivity and stereotyped behavior in FXS patients.In recent years,breakthroughs have been made in functional study of synaptic plasticity in FXS,providing a new theoretical basis for FXS.This article mainly summarizes the dysregulation and influencing factors of synaptic plasticity in FXS,as well as the strategy of targeted synaptic plasticity in FXS,so as to deepen the understanding of medical workers.

关 键 词：脆性X综合征 脆性X综合征智力低下蛋白 突触可塑性 

分 类 号：R741[医药卫生—神经病学与精神病学]