Ion channel-related hereditary hearing loss: a narrative review

Honglan Zheng, Wanning Cui, Zhiqiang Yan
{"title":"Ion channel-related hereditary hearing loss: a narrative review","authors":"Honglan Zheng, Wanning Cui, Zhiqiang Yan","doi":"10.1097/JBR.0000000000000108","DOIUrl":null,"url":null,"abstract":"Abstract Sensorineural hearing loss is the most common sensory deficit in humans, with an estimated prevalence of 1 in 500 newborns. Approximately half of childhood hearing loss is attributed to genetic factors and can be classified as syndromic or non-syndromic based on the inheritance pattern. The ion channel genes KCNQ1, KCNE1, KCNQ4, P2RX2, TMC1, KCNJ10, and CACNA1D have frequently been associated with genetic hearing loss. Because of the important roles these genes play in cochlear hair cell function and the auditory pathways, mutations in these genes that result in impaired ion channel function can lead to hereditary hearing loss. The main purpose of this review was to examine the latest research progress on the functional roles, inheritance pattern, gene expression, protein structure, clinical phenotypes, mouse models, and possible treatments of the most commonly studied ion channels associated with inherited deafness. A comprehensive summary could help highlight ion channels that should be investigated as potential drug targets for the treatment of inherited deafness.","PeriodicalId":150904,"journal":{"name":"Journal of Bio-X Research","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2021-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Bio-X Research","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1097/JBR.0000000000000108","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 1

Abstract

Abstract Sensorineural hearing loss is the most common sensory deficit in humans, with an estimated prevalence of 1 in 500 newborns. Approximately half of childhood hearing loss is attributed to genetic factors and can be classified as syndromic or non-syndromic based on the inheritance pattern. The ion channel genes KCNQ1, KCNE1, KCNQ4, P2RX2, TMC1, KCNJ10, and CACNA1D have frequently been associated with genetic hearing loss. Because of the important roles these genes play in cochlear hair cell function and the auditory pathways, mutations in these genes that result in impaired ion channel function can lead to hereditary hearing loss. The main purpose of this review was to examine the latest research progress on the functional roles, inheritance pattern, gene expression, protein structure, clinical phenotypes, mouse models, and possible treatments of the most commonly studied ion channels associated with inherited deafness. A comprehensive summary could help highlight ion channels that should be investigated as potential drug targets for the treatment of inherited deafness.
离子通道相关的遗传性听力损失:述评
感觉神经性听力损失是人类最常见的感觉缺陷,估计每500个新生儿中就有1个。大约一半的儿童听力损失可归因于遗传因素,并可根据遗传模式分为综合征型和非综合征型。离子通道基因KCNQ1、KCNE1、KCNQ4、P2RX2、TMC1、KCNJ10和CACNA1D经常与遗传性听力损失相关。由于这些基因在耳蜗毛细胞功能和听觉通路中起重要作用,这些基因的突变导致离子通道功能受损可导致遗传性听力损失。本文综述了近年来研究较多的与遗传性耳聋相关的离子通道的功能作用、遗传模式、基因表达、蛋白结构、临床表型、小鼠模型以及可能的治疗方法等方面的最新研究进展。一个全面的总结可以帮助突出离子通道作为治疗遗传性耳聋的潜在药物靶点。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
自引率
0.00%
发文量
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信