Polansky Jon R
Department of Ophthalmology, University of California Medical Center, University of California, San Francisco School of Medicine, 10 Koret Way, San Francisco, CA 94143-0730, USA.
Ophthalmol Clin North Am. 2003 Dec;16(4):515-27, v-vi. doi: 10.1016/s0896-1549(03)00068-3.
Over the past several years, many groups worldwide have confirmed the presence of probable disease-causing mutations in the coding region of the (TIGR/MYOC) gene associated with glaucoma. Disease-associated point mutations are often found in the third exon of TIGR/MYOC and are predicted to exert a substantial influence on protein structure. Although there has been speculation as to the mechanisms involved in the pathogenic effects for a number of the mutations, the processes leading to the development of glaucoma involving TIGR/MYOC remain to be elucidated. In addition to ongoing mutation studies, efforts are underway to follow up on TIGR/MYOC gene regulation studies in human trabecular meshwork cells and other possibly relevant cell types. Potentially by altering gene regulation, a major variant (-1000 G/C), present in 15-20% of individuals, appears to be associated with a more rapid progression of glaucomatous disease. This article addresses several of these areas of research on the TIGR/MYOC gene and glaucoma, briefly presenting currently available evidence and considering or updating information presented previously.
在过去几年里，全球许多研究团队都证实，与青光眼相关的（TIGR/MYOC）基因编码区存在可能导致疾病的突变。与疾病相关的点突变常出现在TIGR/MYOC的第三个外显子中，预计会对蛋白质结构产生重大影响。尽管对于许多突变的致病机制已有推测，但涉及TIGR/MYOC导致青光眼发展的过程仍有待阐明。除了正在进行的突变研究外，目前正在努力跟进人小梁网细胞和其他可能相关细胞类型中的TIGR/MYOC基因调控研究。一种存在于15%-20%个体中的主要变体（-1000 G/C），可能通过改变基因调控，似乎与青光眼疾病的更快进展有关。本文探讨了TIGR/MYOC基因与青光眼的几个研究领域，简要介绍了目前可得的证据，并考量或更新了之前呈现的信息。
