Li Xuekun, Jin Peng
Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Suite 301, Atlanta, Georgia, 30322, USA.
Neuromolecular Med. 2009;11(3):200-7. doi: 10.1007/s12017-009-8081-2. Epub 2009 Aug 11.
Fragile X syndrome (FXS), the most common form of inherited mental retardation, is caused by the loss of functional fragile X mental retardation protein (FMRP). FMRP is an RNA-binding protein that can regulate the translation of specific mRNAs. It is known to regulate synaptic development through the regulation of local protein synthesis in synapses. MicroRNAs (miRNAs) are a class of small noncoding RNAs involved in almost every biological process. They exhibit spatiotemporal expression during brain development, and some miRNAs play important roles in neural development. A growing body of evidence now implicates the miRNA pathway in the molecular pathogenesis of FXS. Here we review the current state of knowledge about the microRNA pathway in neural development and the emergence of possible roles for miRNAs in FXS.
脆性X综合征（FXS）是遗传性智力障碍最常见的形式，由功能性脆性X智力障碍蛋白（FMRP）缺失所致。FMRP是一种RNA结合蛋白，可调节特定mRNA的翻译。已知它通过调节突触中的局部蛋白质合成来调控突触发育。微小RNA（miRNA）是一类参与几乎所有生物过程的小型非编码RNA。它们在大脑发育过程中呈现时空表达，一些miRNA在神经发育中发挥重要作用。越来越多的证据表明，miRNA通路参与了FXS的分子发病机制。在此，我们综述了关于神经发育中miRNA通路的当前知识状态以及miRNA在FXS中可能发挥的作用。
