Radixin modulates the function of outer hair cell stereocilia.
Radixin modulates the function of outer hair cell stereocilia.
复制标题
DOI：
10.1038/s42003-020-01506-y
复制
发表时间：
2020-12-23
影响因子：
5.9
通讯作者：
Fridberger A
中科院分区：
文献类型：
--
作者：
Prasad S;Vona B;Diñeiro M;Costales M;González-Aguado R;Fontalba A;Diego-Pérez C;Subasioglu A;Bademci G;Tekin M;Cabanillas R;Cadiñanos J;Fridberger A
内耳感觉细胞的静纤毛含有由RDX编码的肌动蛋白结合蛋白radixin。Radixin对听力很重要，但功能仍然不清楚。为了确定radixin如何影响听力灵敏度，我们使用自定义快速成像技术来可视化静纤毛运动，同时测量声刺激期间的电位幅度。抑制Radixin可降低声诱发电位。其他功能的措施，包括电诱导的感觉细胞运动和声音诱发的静纤毛偏转，表现出轻微的振幅增加。这些独特的功能改变表明，radixin是将声音以声学速率转化为电信号所必需的。我们确定了出生时听力正常的RDX变体患者，他们在出生后的头几个月内听力迅速恶化。这可能被新生儿听力筛查所忽视，并解释为出生后感觉细胞的多重干扰。我们的结论是radixin是必要的，以确保正常转换的声音电信号在内耳。Sonal Prasad等人鉴定了与早期听力损失相关的Radixin（RDX）基因中的几种突变。通过豚鼠模型，他们提出radixin有助于在成熟的内耳中将声音转化为电信号。
The stereocilia of the inner ear sensory cells contain the actin-binding protein radixin, encoded by RDX. Radixin is important for hearing but remains functionally obscure. To determine how radixin influences hearing sensitivity, we used a custom rapid imaging technique to visualize stereocilia motion while measuring electrical potential amplitudes during acoustic stimulation. Radixin inhibition decreased sound-evoked electrical potentials. Other functional measures, including electrically induced sensory cell motility and sound-evoked stereocilia deflections, showed a minor amplitude increase. These unique functional alterations demonstrate radixin as necessary for conversion of sound into electrical signals at acoustic rates. We identified patients with RDX variants with normal hearing at birth who showed rapidly deteriorating hearing during the first months of life. This may be overlooked by newborn hearing screening and explained by multiple disturbances in postnatal sensory cells. We conclude radixin is necessary for ensuring normal conversion of sound to electrical signals in the inner ear. Sonal Prasad et al. identify several mutations in the radixin (RDX) gene that are associated with early-life hearing loss. Using a guinea pig model, they propose that radixin helps convert sound into electrical signals in the mature inner ear.
登录
查看更多内容
影响因子：
--
作者：
Kahsai, Alem W.;Zhu, Shoutian;Fenteany, Gabriel
通讯作者：
Fenteany, Gabriel
影响因子：
5.3
作者：
Gagnon, Leona H.;Longo-Guess, Chantal M.;Johnson, Kenneth R.
通讯作者：
Johnson, Kenneth R.
DOI：
10.1038/gim.2015.89
发表时间：
2016-04
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Bademci G;Foster J 2nd;Mahdieh N;Bonyadi M;Duman D;Cengiz FB;Menendez I;Diaz-Horta O;Shirkavand A;Zeinali S;Subasioglu A;Tokgoz-Yilmaz S;Huesca-Hernandez F;de la Luz Arenas-Sordo M;Dominguez-Aburto J;Hernandez-Zamora E;Montenegro P;Paredes R;Moreta G;Vinueza R;Villegas F;Mendoza-Benitez S;Guo S;Bozan N;Tos T;Incesulu A;Sennaroglu G;Blanton SH;Ozturkmen-Akay H;Yildirim-Baylan M;Tekin M
通讯作者：
Tekin M
影响因子：
25
作者：
Chen, Fangyi;Zha, Dingjun;Fridberger, Anders;Zheng, Jiefu;Choudhury, Niloy;Jacques, Steven L.;Wang, Ruikang K.;Shi, Xiaorui;Nuttall, Alfred L.
通讯作者：
Nuttall, Alfred L.
苯胂氧化物 (PAO) 通过 ROS 介导的线粒体和 ER 应激依赖性信号通路诱导 HepG2 细胞凋亡
影响因子：
3.4
作者：
Huang, Ping;Zhang, Yu Hua;Naranmandura, Hua
通讯作者：
Naranmandura, Hua