| 邓娅青,江海波.OPTN突变致RGCs自噬异常引起POAG的研究进展.[J].中南医学科学杂志.,2022,(3):458-461. |
| OPTN突变致RGCs自噬异常引起POAG的研究进展 |
| The mutation of OPTN gene affecting autophagy of RGCs lead to POAG |
| 投稿时间：2021-09-02 修订日期：2022-02-23 |
| DOI：10.15972/j.cnki.43-1509/r.2022.03.039 |
| 中文关键词: OPTN基因突变 原发性开角型青光眼 视网膜神经节细胞 |
| 英文关键词:OPTN gene mutation primary open-angle glaucoma retinal ganglion cells |
| 基金项目:湖南省自然科学基金科卫联合项目(2021JJ70072)；吴阶平医学基金会临床科研专项资助项目(33020129088) 作者简介:邓娅青,硕士研究生,住院医师,研究方向为青光眼白内障,E-mail为198112328@csu.edu.cn。通信作者江海波,博士,副主任医师,硕士研究生导师,研究方向为青光眼白内障,E-mail为jiang1303@gmail.com。 |
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| 中文摘要: |
| 原发性开角型青光眼(POAG)是一种常见的致盲性眼病,其发病机制复杂,与OPTN基因发生突变有关。其中与POAG相关的OPTN突变有H26D、E50K、M98K、E103D、691_692insAG、T202R、A336G、A377T、H486R、R545Q等。OPTN基因编码的Optineurin蛋白是重要的自噬受体,参与细胞自噬。研究发现OPTN基因某些突变可通过使视网膜神经节细胞(RGCs)自噬异常引起POAG。本文从OPTN突变与POAG、OPTN与其编码蛋白Optineurin、RGCs自噬与POAG、OPTN突变致RGCs自噬异常的相关基础研究等方面进行综述。 |
| 英文摘要: |
| Primary open-angle glaucoma (POAG) is a common blinding eye disease, and its pathogenesis is complicated, which is related to OPTN gene mutation. POAG-related OPTN mutations include H26D, E50K, M98K, E103D, 691_692insAG, T202R, A336G, A377T, H486R, R545Q,etc. Optineurin protein encoded by OPTN gene is an important autophagy receptor involved in autophagy. It has been found that some mutations of OPTN gene can cause POAG by abnormal autophagy of retinal ganglion cells (RGCs). In this paper, basic studies on OPTN mutation and POAG, OPTN and its encoding protein Optineurin, RGCs autophagy and POAG, and OPTN mutation induced RGCs autophagy abnormality are reviewed. |
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