EAST/SeSAME耳聋综合征及内向整流性钾离子通道Kir4.1在内耳中的功能表达  

EAST/SeSAME syndrome and functional expression of inward rectifier potassium channel Kir4.1 in the inner ear

作　　者：陈静[1] 赵红波 

机构地区：[1]三峡大学医学院解剖与组织胚胎学系,湖北宜昌443002 [2]Department of Otolaryngology,University of Kentucky Medical Center

出　　处：《临床耳鼻咽喉头颈外科杂志》2015年第14期1318-1322,共5页Journal of Clinical Otorhinolaryngology Head And Neck Surgery

基　　金：国家留学基金委资助(No:201207620018)

摘　　要：EAST或者SeSAME耳聋综合征是一种新发现的常染色体隐形遗传病,由KCNJ10基因突变产生。KCNJ10基因编码内向整流性钾离子通道4.1（inwardly rectifying potassium channel 4.1,Kir4.1）的特点是在细胞膜电位超极化情况下电导增加,而去极化情况下电导降低,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 Kir4.1subunit 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 Kir4.1channels in the inner ear and mutation-induced EAST/SeSAME syndromes to provide insight for understanding the pathogenesis of deafness induced by KCNJ10 deficiency.

关 键 词：KCNJ10 耳蜗内电位 耳聋 EAST综合征 SeSAME综合征 

分 类 号：R764.35[医药卫生—耳鼻咽喉科]