GABAA受体与脆性X综合征

GABAA receptors and fragile X syndrome

脆性X综合征（fragile X syndrome,FXS）是引起先天性智力低下的常见疾病,GABAA受体是哺乳动物中枢神经系统内最主要的抑制性神经递质受体,与焦虑、抑郁、癫癎、睡眠、认知等相关.多项研究证明GABA能神经系统特别是GABAA受体的变化与FXS的遗传表型有关.GABAA受体某些亚基的表达变化是FXS患者神经行为学改变的原因之一,可为FXS的治疗提供一个新的方向.

Fragile X syndrome is a common cause of inherit mental retardation,GABAA receptors are the major inhibitory neurotransmitter receptros in the mammalian central nervous system, implicated in anxiety,depression, epilepsy, sleeping problem, learning and memory, and so on. Several researches indicated that the GABAergic system, in particular the GABAA receptors might be related to the phenotype of fragile X syndrome. An altered expression of certain subunits of the GABAA receptors may cause the neurological and behavioural changes of the fragile X syndrome. Therefore,the GABAA receptors can be a novel therapeutic target for treatment of fragile X syndrome.