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Fragile X syndrome (FXS) is the most common form of inherited mental retardation, characterized by moderate-tosevere mental retardation, attention deficits, and hyperactivity. This disease results from the expansion of a trinucleotide repeat (CGG) within the X-linked fragile X mental retardation 1 (FMR1) gene, which leads to the lack of the product of the FMR1 gene—fragile X mental retardation protein. Many mental disorders such as FXS and Rett syndrome are thought to originate during early developmental period, but recent findings have suggested the involvement of the processes in the adult nervous system. Here we outline our recent studies and initial clinical trials that may provide an approach to treat FXS in the adulthood.
脆性X综合症是临床最为常见的遗传性智力发育迟滞综合症, 其特征性表现包括中度至严重的智力发育障碍、 注意力降低、 多动等。 发病原因是X- 基因连锁的脆性基因(FMR1)CGG 序列过度重复表达, 导致FMR1 基因沉默, 其表达产物FMRP缺失。 脆性X综合症与Ratt 综合症等被认为起源于早期的发育障碍, 但最近的研究表明, 成年动物中枢神经系统功能异常也参与疾病的病理发展。 本文对最近的研究结果加以综述, 并对潜在的成年脆性X综合症治疗的相关临床试验进行探讨。