电压门控性氯离子通道与智力障碍的研究进展

Advances in chloride voltage-gated channel and intellectual disability

电压门控性氯离子通道作为生物体内一类重要的离子通道, 有许多重要的生理功能。CLCN基因编码电压门控性氯离子通道蛋白, 该基因家族共有9个成员(CLCN1~7, CLCNKa与CLCNKb)。CLCN基因突变引起氯离子通道蛋白的异常表达, 影响神经元信号传导、离子稳态、细胞内转运以及溶酶体蛋白降解等生物学活动, 进而改变离子通道门控特性, 干扰神经系统的正常发育进程, 从而可能导致智力障碍的发生。近年来, 通过对CLCN基因家族的进一步研究发现, 该家族部分成员基因突变与智力障碍的产生关系密切。该文将对电压门控性氯离子通道和智力障碍的相关性进行综述。

Chloride voltage-gated channel,as an important ion channel in living organisms,has many important physiological functions.The gene encoding chloride voltage-gated channel protein is CLCN,which has nine members(CLCN1~7,CLCNKa,and CLCNKb).The CLCN gene variants lead to abnormal expression of chloride channel proteins,which affect the biological activities of neuronal signaling,ion homeostasis,intracellular transport,and lysosomal protein degradation,thereby altering ion channel gating properties,interfering with the normal developmental process of the nervous system,and causing the development of intellectual disability.In recent years,further studies of the CLCN gene have found that the variants in some members of this family are closely related to intellectual disability.This review will discuss the correlation between the chloride voltage-gated channel and intellectual disability.