The molecular biology of FMRP: new insights into fragile X syndrome.
The molecular biology of FMRP: new insights into fragile X syndrome.
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DOI：
10.1038/s41583-021-00432-0
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发表时间：
2021-04
期刊：
影响因子：
--
通讯作者：
Zhao X
中科院分区：
文献类型：
--
作者：
Richter JD;Zhao X
脆性X智力迟钝1蛋白FMRP是FMR1的产物，FMR1是一种基因，其表观遗传失活通过三联体核苷酸重复扩增导致脆性X综合征（FXS），一种神经发育障碍。FMRP是一种广泛表达的RNA结合蛋白，其活性对于正确的突触可塑性和结构至关重要，而突触可塑性和结构是FXS中已知出错的神经功能方面。二十多年来，FMRP一直被称为翻译抑制蛋白；在缺乏它的情况下，大脑中的蛋白质合成过多，这反过来又损害了神经元回路的形成和高级认知功能。然而，尽管脆性X综合征的神经生理学已经得到了非常详细的描述，但对FMRP分子生物学的研究只触及了表面。从小鼠和人类模型的全转录组和翻译组分析的最新进展表明，FMRP几乎参与了基因表达的所有方面。FMRP调控的新机制细节为考虑治疗FXS的新疗法提供了途径。
The Fragile X Mental Retardation 1 protein FMRP is the product of FMR1, a gene whose epigenetic inactivation by a triplet nucleotide repeat expansion causes Fragile X Syndrome (FXS), a neurodevelopmental disorder. FMRP is a widely expressed RNA binding protein whose activity is essential for proper synaptic plasticity and architecture, aspects of neural function that are known to go awry in FXS. For over two decades, FMRP has been known as a translational repressor protein; in its absence, protein synthesis in the brain is excessive, which in turn impairs neuronal circuit formation and higher cognitive function. However, although the neurophysiology of Fragile X Syndrome has been described in remarkable detail, research focusing on the molecular biology of FMRP has only scratched the surface. Recent advances in whole transcriptome and translatome analysis from mouse and human models of the disorder show that FMRP is involved in nearly all aspects of gene expression. Emerging mechanistic details of FMRP regulation offer ways to consider new therapies to treat FXS.
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