FMR1基因在脆性X综合征诊断及治疗中的应用进展  

Application Progress of FMR1 Gene in Diagnosis and Treatment of Fragile X Syndrome

作　　者：廖缘 曾晓玲[1] 杨婧[2] LIAO Yuan;ZENG Xiaoling;YANG Jing(Guizhou Medical University,Guizhou 550004,China;Department of Obstetrics and Gynecology,Guizhou People′s Hospital,Guizhou 550004,China)

机构地区：[1]贵州医科大学,贵州550004 [2]贵州省人民医院妇产科,贵州550004

出　　处：《医学综述》2022年第12期2476-2481,共6页Medical Recapitulate

基　　金：贵州省科技计划项目(黔科合基础〔2020〕1Y149)。

摘　　要：脆性X综合征(FXS)除表现为语言发育不良和癫痫发作外,患者还可能出现严重的行为改变,包括多动、冲动和焦虑等。FXS是一种三核苷酸重复障碍,其中脆性X智力障碍1(FMR1)基因超过200个CGG基序重复会导致基因沉默,并导致其产物脆性X智力低下蛋白丢失。针对FXS的发病机制如激活FMR1基因表达、非编码RNA以及病毒载体介导的FXS基因治疗被认为是具有研究潜力的病因学治疗方法,但尚处于研究阶段。针对高危人群进行产前诊断及筛查是减少FXS患儿出生的有效方法。在未来的研究中,针对FMR1基因进行早期诊断和治疗将会是FXS研究的主要方向。Fragile X syndrome(FXS)patients may experience severe behavioral changes,including hyperactivity,impulsivity and anxiety,in addition to poor language development and seizures.FXS is a trinucleotide repeat disorder in which more than 200 CGG motif repeats in the fragile X mental retardation 1(FMR1)gene,and lead to gene silencing and loss of its product--the fragile X mental retardation protein.Targeting the pathogenesis of FXS such as activation of FMR1 gene expression,non-coding RNA,and viral vector-mediated FXS gene therapy are considered to be potential etiological treatments,which are still in the research stage.Prenatal diagnosis and screening of high-risk populations is an effective method to reduce the birth of children with FXS.In future research,early diagnosis and treatment of FMR1 gene pair will be the main direction of FXS research.

关 键 词：脆性X综合征 脆性X智力障碍1基因 脆性X智力低下蛋白 

分 类 号：R749.99[医药卫生—神经病学与精神病学]