Yue Beatrice Y J T
Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago College of Medicine, Chicago, Illinois, USA.
Taiwan J Ophthalmol. 2011 Nov 1;1(1):6-11. doi: 10.1016/j.tjo.2011.08.002.
Myocilin and optineurin are two genes linked to glaucoma, a major blinding disease characterized by progressive loss of retinal ganglion cells and their axons. This review describes the characteristics of myocilin and optineurin protein products and summarizes the consequences of ectopically expressed wild type and mutant myocilin and optineurin in trabecular meshwork and/or neuronal cells. Myocilin and optineurin exhibit differential characteristics and have divergent functional consequences. They contribute to the development of glaucoma likely via distinct mechanisms.
肌纤蛋白和视紫质是与青光眼相关的两个基因,青光眼是一种主要的致盲疾病,其特征是视网膜神经节细胞及其轴突逐渐丧失。本综述描述了肌纤蛋白和视紫质蛋白产物的特征,并总结了野生型和突变型肌纤蛋白及视紫质在小梁网和/或神经元细胞中异位表达的后果。肌纤蛋白和视紫质表现出不同的特征,并具有不同的功能后果。它们可能通过不同的机制促成青光眼的发展。