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溶质载体在听觉功能中的作用。

The Roles of Solute Carriers in Auditory Function.

作者信息

Qian Fuping, Jiang Xiaoge, Chai Renjie, Liu Dong

机构信息

School of Life Sciences, Nantong University, Nantong, China.

Department of Rehabilitation Medicine, The Second People's Hospital of Nantong, Affiliated Rehabilitation Hospital of Nantong University, Nantong, China.

出版信息

Front Genet. 2022 Jan 26;13:823049. doi: 10.3389/fgene.2022.823049. eCollection 2022.

DOI:10.3389/fgene.2022.823049
PMID:35154281
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8827148/
Abstract

Solute carriers (SLCs) are important transmembrane transporters with members organized into 65 families. They play crucial roles in transporting many important molecules, such as ions and some metabolites, across the membrane, maintaining cellular homeostasis. SLCs also play important roles in hearing. It has been found that mutations in some SLC members are associated with hearing loss. In this review, we summarize SLC family genes related with hearing dysfunction to reveal the vital roles of these transporters in auditory function. This summary could help us understand the auditory physiology and the mechanisms of hearing loss and further guide future studies of deafness gene identification.

摘要

溶质载体（SLCs）是重要的跨膜转运蛋白，其成员分为65个家族。它们在跨膜运输许多重要分子（如离子和一些代谢物）、维持细胞稳态方面发挥着关键作用。SLCs在听力方面也起着重要作用。已发现一些SLC成员的突变与听力损失有关。在本综述中，我们总结了与听力功能障碍相关的SLC家族基因，以揭示这些转运蛋白在听觉功能中的重要作用。这一总结有助于我们理解听觉生理学和听力损失的机制，并进一步指导未来耳聋基因鉴定的研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d94f/8827148/8102b4b41e0d/fgene-13-823049-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d94f/8827148/6e95d4959609/fgene-13-823049-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d94f/8827148/8102b4b41e0d/fgene-13-823049-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d94f/8827148/6e95d4959609/fgene-13-823049-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d94f/8827148/8102b4b41e0d/fgene-13-823049-g002.jpg

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Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa.遗传性非综合征性听力损失中的基因：西北非地区p.C113Y突变的复发和不完全外显率
Front Genet. 2021 Feb 10;12:606630. doi: 10.3389/fgene.2021.606630. eCollection 2021.
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The gene is required for hair cell development in zebrafish.
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Aging (Albany NY). 2020 Oct 12;12(19):18804-18821. doi: 10.18632/aging.103840.
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Aldosterone up-regulates voltage-gated potassium currents and NKCC1 protein membrane fractions.醛固酮上调电压门控钾电流和 NKCC1 蛋白膜片段。
Sci Rep. 2020 Sep 24;10(1):15604. doi: 10.1038/s41598-020-72450-4.
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SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.SLC12A2 变异导致神经发育障碍或耳蜗前庭缺陷。
Brain. 2020 Aug 1;143(8):2380-2387. doi: 10.1093/brain/awaa176.
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Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans.编码 SLC12A2 受限羧基末端结构域的变体导致人类遗传性听力损失。
PLoS Genet. 2020 Apr 15;16(4):e1008643. doi: 10.1371/journal.pgen.1008643. eCollection 2020 Apr.
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Exposure to sodium salicylate disrupts VGLUT3 expression in cochlear inner hair cells and contributes to tinnitus.水杨酸钠暴露破坏耳蜗内毛细胞中的 VGLUT3 表达，导致耳鸣。
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