Molecular Biology and Genetics Section, National Institute on Deafness and Other Communication Disorders, NIH, Rockville, Maryland 20850-3320, USA.
J Clin Invest. 2011 Dec;121(12):4796-809. doi: 10.1172/JCI60405. Epub 2011 Nov 21.
Inner ear hair cells convert the mechanical stimuli of sound, gravity, and head movement into electrical signals. This mechanotransduction process is initiated by opening of cation channels near the tips of hair cell stereocilia. Since the identity of these ion channels is unknown, and mutations in the gene encoding transmembrane channel-like 1 (TMC1) cause hearing loss without vestibular dysfunction in both mice and humans, we investigated the contribution of Tmc1 and the closely related Tmc2 to mechanotransduction in mice. We found that Tmc1 and Tmc2 were expressed in mouse vestibular and cochlear hair cells and that GFP-tagged TMC proteins localized near stereocilia tips. Tmc2 expression was transient in early postnatal mouse cochlear hair cells but persisted in vestibular hair cells. While mice with a targeted deletion of Tmc1 (Tmc1(Δ) mice) were deaf and those with a deletion of Tmc2 (Tmc2(Δ) mice) were phenotypically normal, Tmc1(Δ)Tmc2(Δ) mice had profound vestibular dysfunction, deafness, and structurally normal hair cells that lacked all mechanotransduction activity. Expression of either exogenous TMC1 or TMC2 rescued mechanotransduction in Tmc1(Δ)Tmc2(Δ) mutant hair cells. Our results indicate that TMC1 and TMC2 are necessary for hair cell mechanotransduction and may be integral components of the mechanotransduction complex. Our data also suggest that persistent TMC2 expression in vestibular hair cells may preserve vestibular function in humans with hearing loss caused by TMC1 mutations.
内耳毛细胞将声音、重力和头部运动的机械刺激转化为电信号。这个机械转导过程是由毛细胞静纤毛尖端附近阳离子通道的打开引发的。由于这些离子通道的身份未知,并且编码跨膜通道样 1(TMC1)的基因突变在小鼠和人类中既引起听力损失又不引起前庭功能障碍,因此我们研究了 Tmc1 和密切相关的 Tmc2 对小鼠机械转导的贡献。我们发现 Tmc1 和 Tmc2 在小鼠前庭和耳蜗毛细胞中表达,并且 GFP 标记的 TMC 蛋白定位于静纤毛尖端附近。Tmc2 在新生小鼠耳蜗毛细胞中的表达是短暂的,但在前庭毛细胞中持续存在。虽然靶向缺失 Tmc1 的小鼠(Tmc1(Δ) 小鼠)失聪,而靶向缺失 Tmc2 的小鼠(Tmc2(Δ) 小鼠)表型正常,但 Tmc1(Δ)Tmc2(Δ) 小鼠则表现出严重的前庭功能障碍、耳聋和结构正常但丧失所有机械转导活性的毛细胞。外源性 TMC1 或 TMC2 的表达可挽救 Tmc1(Δ)Tmc2(Δ) 突变毛细胞的机械转导。我们的结果表明,TMC1 和 TMC2 是毛细胞机械转导所必需的,并且可能是机械转导复合物的组成部分。我们的数据还表明,前庭毛细胞中持续表达 TMC2 可能在 TMC1 突变引起听力损失的人类中保留前庭功能。
J Clin Invest. 2011-11-21
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