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脆性X综合征(fragile X syndrome,FXS)是一种最常见的遗传性智力障碍。这种智力障碍疾病主要是由于脆性X智力低下蛋白(fragile X mental retardation protein,FMRP)的缺失引起。FMRP是一种RNA结合蛋白,通过调节与其结合的信使RNA的翻译而调节神经元内的信号传导。很多FXS病人表现出较高的癫痫发作易感性。癫痫是一种慢性神经系统疾病。它的主要症状是反复的癫痫发作。癫痫发作是由大脑神经元的异常高兴奋性和同步放电引起的。FMRP缺失引起的神经元形态异常和神经元内信号传导的异常均可导致癫痫发作。本文结合在FXS和癫痫病两方面上取得研究结果综合分析,探讨FXS病人癫痫高易感性的发病机理,并对其他智力障碍疾病中的癫痫高易感性的机制的研究做一展望。
Fragile X syndrome (FXS) is one of the most common hereditary mental retardation. This type of mental retardation is mainly caused by the absence of fragile X mental retardation protein (FMRP). FMRP is an RNA-binding protein that regulates signal transduction within neurons by regulating the translation of messenger RNA bound to it. Many FXS patients show a higher susceptibility to seizures. Epilepsy is a chronic neurological disease. Its main symptom is recurrent seizures. Seizures are caused by the abnormally high excitability and synchronous discharge of brain neurons. Neuronal morphological abnormalities caused by FMRP deficiency and abnormal signal transduction within neurons can all lead to seizures. This article combines the results of both the study of FXS and epilepsy comprehensive analysis of the pathogenesis of FXS patients with high susceptibility to epilepsy, and other mental disorders in the study of the mechanism of epilepsy susceptibility to make a look forward.