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

陈静; 赵红波

doi:10.13201/j.issn.1001-1781.2015.14.026

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

陈静^1, ,,
赵红波²

- 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
基金项目:
国家留学基金委资助(No:201207620018)

详细信息

通讯作者: 陈静,E-mail:jingchen.beau@163.com

中图分类号: R764.35

收稿日期: 2014-11-22

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

CHEN Jing^1, ,,
ZHAO Hongbo²

- 2. Department of Otolaryngology,University of Kentucky Medical Center

More Information

Corresponding author: CHEN Jing, E-mail: jingchen.beau@163.com

Received Date: 22 November 2014

摘要

- KCNJ10 /
- endocochlear potential /
- hearing loss /
- EAST syndrome /
- SeSAME syndrome
Abstract: 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.
- KCNJ10 /
- endocochlear potential /
- hearing loss /
- EAST syndrome /
- SeSAME syndrome

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参考文献(39)

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