Department of Ophthalmology, Jingjiang People's Hospital, Jingjiang, Jiangsu 214500, P.R. China.
Department of Ophthalmology, Shanghai Pudong Hospital, Fudan University Pudong Medical Center, Shanghai 201399, P.R. China.
Int J Mol Med. 2019 Feb;43(2):671-681. doi: 10.3892/ijmm.2018.3992. Epub 2018 Nov 20.
Myocilin is highly expressed in the trabecular meshwork (TM), which plays an important role in the regulation of intraocular pressure (IOP). Myocilin abnormalities may cause dysfunction of the TM, potentially leading to increased IOP. High IOP is a well‑known primary risk factor for glaucoma. Myocilin mutations are common among glaucoma patients, and they are implicated in juvenile‑onset open‑angle glaucoma (JOAG) and adult‑onset primary open‑angle glaucoma (POAG). Aggregation of aberrant mutant myocilins is closely associated with glaucoma pathogenesis. The aim of the present review was to discuss the recent findings regarding the major physiological functions of myocilin, such as intra‑ and extracellular proteolytic processes. We also aimed to discuss the risk factors associated with myocilin and the development of glaucoma, such as misfolded/mutant myocilin, imbalance of myocilin and extracellular proteins, and instability of mutant myocilin associated with temperature. Finally, we further outlined certain issues that are yet to be resolved, which may represent the basis for future studies on the role of myocilin in glaucoma.
肌球蛋白在小梁网(TM)中高度表达,在调节眼内压(IOP)方面发挥着重要作用。肌球蛋白异常可能导致 TM 功能障碍,从而导致 IOP 升高。高 IOP 是青光眼的已知主要危险因素。肌球蛋白突变在青光眼患者中很常见,它们与青少年型开角型青光眼(JOAG)和成年型开角型青光眼(POAG)有关。异常突变肌球蛋白的聚集与青光眼的发病机制密切相关。本综述旨在讨论有关肌球蛋白主要生理功能的最新发现,如细胞内和细胞外蛋白水解过程。我们还旨在讨论与肌球蛋白和青光眼发展相关的风险因素,如错误折叠/突变的肌球蛋白、肌球蛋白与细胞外蛋白的失衡以及与温度相关的突变肌球蛋白的不稳定性。最后,我们进一步概述了一些尚未解决的问题,这些问题可能是未来研究肌球蛋白在青光眼中的作用的基础。