Abstract：
Fragile X messenger ribonucleoprotein 1 (FMRP) is a widely expressed RNA binding protein involved in several steps of mRNA metabolism. Mutations in the FMR1 gene encoding FMRP are responsible for fragile X syndrome (FXS), a leading genetic cause of intellectual disability and autism spectrum disorder, and fragile X-associated tremor-ataxia syndrome (FXTAS), a neurodegenerative disorder in aging men. Although FMRP is mainly expressed in neurons, it is also present in glial cells and its deficiency or altered expression can affect functions of glial cells with implications for the pathophysiology of brain disorders. The present review focuses on recent advances on the role of glial subtypes, astrocytes, oligodendrocytes and microglia, in the pathophysiology of FXS and FXTAS, and describes how the absence or reduced expression of FMRP in these cells can impact on glial and neuronal functions. We will also briefly address the role of FMRP in radial glial cells and its effects on neural development, and gliomas and will speculate on the role of glial FMRP in other brain disorders.
摘要：
脆性X信使核糖核蛋白1（FMRP）是一种广泛表达的RNA结合蛋白，参与mRNA代谢的几个步骤。编码FMRP的FMR1基因突变是脆性X综合征（FXS）的原因，智力障碍和自闭症谱系障碍的主要遗传原因，和脆性X相关震颤共济失调综合征（FXTAS），老年男性的神经退行性疾病。尽管FMRP主要在神经元中表达,它也存在于神经胶质细胞中，其缺乏或表达改变会影响神经胶质细胞的功能，对脑部疾病的病理生理学有影响。本综述侧重于神经胶质亚型的作用的最新进展，星形胶质细胞,少突胶质细胞和小胶质细胞，在FXS和FXTAS的病理生理学中，并描述了这些细胞中FMRP的缺失或表达降低如何影响神经胶质和神经元功能。我们还将简要讨论FMRP在放射状神经胶质细胞中的作用及其对神经发育和神经胶质瘤的影响，并推测神经胶质FMRP在其他脑部疾病中的作用。
