X连锁非特异性精神发育迟滞相关基因IL1RAPL1功能研究进展

Progress in the function of IL1RAPL1,an X-linked nonspecific mental retardation-associated gene

IL1RAPL1基因是X连锁非特异性精神发育迟滞(X-linked nonspecific mental retardation,MRX)的相关基因之一,但其致病机制至今尚未完全明确。IL1RAPL1基因编码的白细胞介素1受体辅助蛋白样1(interleukin-1 receptor accessory protein like 1,IL1RAPL1)是一个定位于突触后膜的突触黏附分子,位于该基因的突变可导致编码的蛋白缺失或者产生功能障碍。IL1RAPL1蛋白参与调节树突的形成,并介导IL-1β分子在树突形态上的活性。该文主要总结了IL1RAPL1蛋白的突触和神经元功能最新研究进展,并概括了已发现的与精神发育迟滞(mental retardation,MR)和孤独症谱系障碍(autism spectrum disorder,ASD)相关的部分基因突变,从而为临床诊断及治疗提供依据。

IL1RAPL1 gene is one of the genes related to X-linked nonspecific mental retardation(MRX),but its pathogenic mechanism has not been fully clarified.Interleukin-1 receptor accessory protein like 1(IL1RAPL1)is a synaptic adhesion molecule located on postsynaptic membrane.The mutation of IL1RAPL1 gene can lead to the deletion or dysfunction of this protein.Recent studies have shown that the IL1RAPL1 protein regulates dendritic formation and mediates the activity of IL-1βmolecules on dendritic morphology.This review describes the latest advances in synaptic and neuronal functions of IL1RAPL1,and summarizes some gene mutations that have been found to be associated with mental retardation(MR)and autism spectrum disorder(ASD),to provide evidence for clinical diagnosis and treatment.