Chen Jing, Zhao Hongbo
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2015 Jul;29(14):1318-22.
Inwardly rectifying potassium (Kir) channels exhibit an asymmetrical conductance at hyperpolarization (high conductance) compared to depolarization (low conductance). The KCNJ10 gene which encodes an inwardly rectifying K+ channel Kir4.1 subunit plays an essential role in the inner ear and hearing. Mutations or deficiency of KCNJ10 can cause hearing loss with epilepsy, ataxia, sensorineural deafness, and renal tubulopathy (EAST) or SeSAME (seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance) syndromes. In this review, we mainly focus on the expression and function of Kir4.1 channels in the inner ear and mutation-induced EAST/SeSAME syndromes to provide insight for understanding the pathogenesis of deafness induced by KCNJ10 deficiency.
内向整流钾（Kir）通道在超极化（高电导）时表现出与去极化（低电导）相比不对称的电导。编码内向整流K⁺通道Kir4.1亚基的KCNJ10基因在内耳和听力中起重要作用。KCNJ10的突变或缺陷可导致伴有癫痫、共济失调、感音神经性耳聋和肾小管病（EAST）或SeSAME（癫痫、感音神经性耳聋、共济失调、智力发育迟缓及电解质失衡）综合征的听力丧失。在本综述中，我们主要关注Kir4.1通道在内耳中的表达和功能以及突变诱导的EAST/SeSAME综合征，为理解KCNJ10缺陷所致耳聋的发病机制提供见解。
