The Neurobiology of X-Linked Intellectual Disability
The Neurobiology of X-Linked Intellectual Disability
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DOI：
10.1177/1073858413493972
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发表时间：
2013-10-01
期刊：
影响因子：
5.6
通讯作者：
Passafaro, Maria
中科院分区：
文献类型：
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作者：
Bassani, Silvia;Zapata, Jonathan;Passafaro, Maria
X连锁智力残疾（XLID）影响1%至3%的人口。XLID包括几种异质性疾病，所有这些疾病都以认知障碍和适应能力降低为特征。XLID是由X染色体上的突变引起的;迄今为止，已鉴定出102个XLID基因。由XLID基因编码的蛋白质涉及更高的大脑功能，如认知，学习和记忆，它们的分子作用是深入研究的主题。在这里，我们回顾了最近的研究结果，关于一组代表性的XLID蛋白：脆性X智力低下蛋白;甲基-CpG结合蛋白2和细胞周期蛋白依赖性激酶样5蛋白，这是参与Rett综合征; Rho鸟苷三磷酸酶家族的细胞内信号分子;和类细胞粘附分子。我们讨论了XLID基因突变如何影响突触的结构和功能。
X-linked intellectual disability (XLID) affects 1% to 3% of the population. XLID subsumes several heterogeneous conditions, all of which are marked by cognitive impairment and reduced adaptive skills. XLID arises from mutations on the X chromosome; to date, 102 XLID genes have been identified. The proteins encoded by XLID genes are involved in higher brain functions, such as cognition, learning and memory, and their molecular role is the subject of intense investigation. Here, we review recent findings concerning a representative group of XLID proteins: the fragile X mental retardation protein; methyl-CpG-binding protein 2 and cyclin-dependent kinase-like 5 proteins, which are involved in Rett syndrome; the intracellular signaling molecules of the Rho guanosine triphosphatases family; and the class of cell adhesion molecules. We discuss how XLID gene mutations affect the structure and function of synapses.