Pathological mechanisms of connexin26-related hearing loss: Potassium recycling, ATP-calcium signaling, or energy supply?
Pathological mechanisms of connexin26-related hearing loss: Potassium recycling, ATP-calcium signaling, or energy supply?
复制标题
连接蛋白26相关性听力损失的病理机制：钾循环、ATP-钙信号还是能量供应？
DOI：
10.3389/fnmol.2022.976388
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发表时间：
2022
影响因子：
4.8
通讯作者：
Yang, Jun
中科院分区：
文献类型：
--
作者：
Chen, Penghui;Wu, Wenjin;Zhang, Jifang;Chen, Junmin;Li, Yue;Sun, Lianhua;Hou, Shule;Yang, Jun
遗传性耳聋是人类最常见的先天缺陷之一。GJB2基因突变是最具遗传性的病因。GJB2基因编码的缝隙连接蛋白26 （connexin26, Cx26）负责细胞间物质传递和信号传递，在听力获得和维持中起着至关重要的作用。不同Connexin26转基因小鼠模型的听觉特征可分为重度先天性耳聋和晚发型进行性听力损失两种类型。近年来的研究表明，connexin26缺乏症小鼠出现耳蜗电位降低、主动耳蜗放大功能受损、耳蜗发育障碍等病理改变。在此，本文总结了三种主要假说来解释连接蛋白26相关听力损失的病理机制：钾循环中断、腺苷-三磷酸-钙信号传播中断和能量供应障碍。阐明连接蛋白26相关听力损失的病理机制有助于为这种常见耳聋制定新的保护和治疗策略。对连接蛋白（通道）功能的细胞和分子上游调控机制的详细研究值得进一步深入。
Hereditary deafness is one of the most common human birth defects. GJB2 gene mutation is the most genetic etiology. Gap junction protein 26 (connexin26, Cx26) encoded by the GJB2 gene, which is responsible for intercellular substance transfer and signal communication, plays a critical role in hearing acquisition and maintenance. The auditory character of different Connexin26 transgenic mice models can be classified into two types: profound congenital deafness and late-onset progressive hearing loss. Recent studies demonstrated that there are pathological changes including endocochlear potential reduction, active cochlear amplification impairment, cochlear developmental disorders, and so on, in connexin26 deficiency mice. Here, this review summarizes three main hypotheses to explain pathological mechanisms of connexin26-related hearing loss: potassium recycling disruption, adenosine-triphosphate-calcium signaling propagation disruption, and energy supply dysfunction. Elucidating pathological mechanisms underlying connexin26-related hearing loss can help develop new protective and therapeutic strategies for this common deafness. It is worthy of further study on the detailed cellular and molecular upstream mechanisms to modify connexin (channel) function.
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影响因子：
11.4
作者：
Fetoni AR;Zorzi V;Paciello F;Ziraldo G;Peres C;Raspa M;Scavizzi F;Salvatore AM;Crispino G;Tognola G;Gentile G;Spampinato AG;Cuccaro D;Guarnaccia M;Morello G;Van Camp G;Fransen E;Brumat M;Girotto G;Paludetti G;Gasparini P;Cavallaro S;Mammano F
通讯作者：
Mammano F
影响因子：
3.3
作者：
Chen J;Zhao HB
通讯作者：
Zhao HB
DOI：
10.1073/pnas.1616061113
发表时间：
2016-11-15
影响因子：
11.1
作者：
Ceriani, Federico;Pozzan, Tullio;Mammano, Fabio
通讯作者：
Mammano, Fabio
影响因子：
3.7
作者：
Chang Q;Tang W;Ahmad S;Zhou B;Lin X
通讯作者：
Lin X
影响因子：
6.1
作者：
Chang, Qing;Tang, Wenxue;Lin, Xi
通讯作者：
Lin, Xi