Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction.
Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction.
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DOI：
10.1016/j.anl.2014.04.001
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发表时间：
2014-10
影响因子：
1.7
通讯作者：
Griffith, Andrew J.
中科院分区：
文献类型：
--
作者：
Nakanishi, Hiroshi;Kurima, Kiyoto;Kawashima, Yoshiyuki;Griffith, Andrew J.
跨膜通道样1基因（TMC1）突变可引起显性（DFNA36）或隐性（DFNB7/B11）耳聋。在本文中，我们描述了DFNA36和DFNB7/B11耳聋的特征，Tmc1突变小鼠品系的特征，以及我们对Tmc1功能的理解的最新进展。通过PubMed找到与TMC1、DFNA36或DFNB7/B11相关的出版物。所有DFNA36受试者均表现为语后进行性感音神经性听力损失（HL），最初影响高频。相比之下，几乎所有受DFNB7/B11影响的受试者都表现为先天性或语前重度至重度感音神经性HL。小鼠Tmc1基因也有显性和隐性突变等位基因，在突变株中引起HL，包括贝多芬、耳聋和Tmc1敲除小鼠。这些突变小鼠有助于揭示Tmc1及其密切相关的平行Tmc2在耳蜗和前庭毛细胞中表达，并且是毛细胞机电转导（MET）所必需的。最近的研究表明，TMC1和TMC2可能是长期寻找的毛细胞MET通道的组成部分。TMC1突变破坏毛细胞MET。
Mutations of transmembrane channel-like 1 gene (TMC1) can cause dominant (DFNA36) or recessive (DFNB7/B11) deafness. In this article, we describe the characteristics of DFNA36 and DFNB7/B11 deafness, the features of the Tmc1 mutant mouse strains, and recent advances in our understanding of TMC1 function. Publications related to TMC1, DFNA36 or DFNB7/B11 were identified through PubMed. All affected DFNA36 subjects showed post-lingual, progressive, sensorineural hearing loss (HL), initially affecting high frequencies. In contrast, almost all affected DFNB7/B11 subjects demonstrated congenital or prelingual severe to profound sensorineural HL. The mouse Tmc1 gene also has dominant and recessive mutant alleles that cause HL in mutant strains, including Beethoven, deafness and Tmc1 knockout mice. These mutant mice have been instrumental for revealing that Tmc1 and its closely related paralog Tmc2 are expressed in cochlear and vestibular hair cells, and are required for hair cell mechanoelectrical transduction (MET). Recent studies suggest that TMC1 and TMC2 may be components of the long-sought hair cell MET channel. TMC1 mutations disrupt hair cell MET.
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TMC1的突变分析鉴定了四个新突变，并提出了位点DFNA36和DFNB7/11的额外耳聋基因。
影响因子：
3.5
作者：
Hilgert N;Alasti F;Dieltjens N;Pawlik B;Wollnik B;Uyguner O;Delmaghani S;Weil D;Petit C;Danis E;Yang T;Pandelia E;Petersen MB;Goossens D;Favero JD;Sanati MH;Smith RJ;Van Camp G
通讯作者：
Van Camp G
影响因子：
30.8
作者：
Kurima, K;Peters, LM;Griffith, AJ
通讯作者：
Griffith, AJ
影响因子：
4
作者：
El-Amraoui, A;Petit, C
通讯作者：
Petit, C
影响因子：
15.9
作者：
Kawashima, Yoshiyuki;Geleoc, Gwenaelle S. G.;Griffith, Andrew J.
通讯作者：
Griffith, Andrew J.
影响因子：
1.6
作者：
de Heer, Anne-Martine R.;Collin, Rob W. J.;Cremers, Cor W. R. J.
通讯作者：
Cremers, Cor W. R. J.