Advances in chloride voltage-gated channel and intellectual disability
10.3760/cma.j.issn.1673-4408.2023.02.008
- VernacularTitle:电压门控性氯离子通道与智力障碍的研究进展
- Author:
Sinan LI
1
;
Xiaoke ZHAO
Author Information
1. 南京医科大学附属儿童医院康复医学科 210008
- Keywords:
Chloride voltage-gated channel;
Gene mutation;
Intellectual disability
- From:
International Journal of Pediatrics
2023;50(2):104-107
- CountryChina
- Language:Chinese
-
Abstract:
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.
