摘要原发性开角型青光眼(POAG)是以视野渐进性缺损为特点的遗传异质性的综合性神经退行性疾病.OPTN基因是近年来已被确认的POAG的致病基因,该基因的突变可导致其所表达蛋白Optineurin结构及功能的异常.Optineurin与一些特定蛋白配体偶联后发挥相应的分子生物学功能,当其结构异常时,将导致Optineurin不能与其配体偶联或者偶联后功能异常.本综述主要介绍OPTN基因的结构、定位,其表达蛋白Optineurin的结构,Optineurin与配体偶联后的分子生物学功能,以及OPTN基因突变后与POAG发病的关系等方面的研究进展.

abstractsPrimary open angle glaucoma (POAG) is a synthetically genetic heterogeneity in neurodegenerative disease, characterized by a gradual loss of vision.The optineurin (OPTN) gene has already been identified as one of the genes that cause POAG.OPTN mutation may result in structural and functional changes of its protein, optineurin.Optineurin has been shown to bind with a number of specific ligands.Optineurin mutation may break the interactions with proteins or make the function of binding complexes abnormal.The location, the structure of the OPTN gene, binding partners and molecular biology functions of optineurin, and the relationship between the mutation of the OPTN gene and POAG are introduced one by one in this review.