Another Piece of the Puzzle: MYOC and Myocilin Glaucoma.
Another Piece of the Puzzle: MYOC and Myocilin Glaucoma.
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另一个难题：MYOC 和 Myocilin 青光眼。
DOI：
10.1167/iovs.17-23045
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发表时间：
2017
影响因子：
4.4
通讯作者：
Fini,MElizabeth
中科院分区：
文献类型：
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作者：
Fini,MElizabeth
MYOC编码分泌蛋白心肌蛋白，是第一个与家族型原发性开角型青光眼（POAG）相关的基因。“心肌型青光眼”的特点是由于小梁网和施勒姆管的水流出量减少，导致眼压非常高。致病变异被认为是由于突变蛋白的错误折叠和细胞内聚集导致毒性功能获得。现在发现了大量的MYOC突变（http://www）。myocilin。com，在公共领域)，主要位于c端olfactomedin （OLF）域。最近，MYOC的OLF结构域的晶体结构被解开，揭示了它是五叶β-螺旋桨家族的成员。这种结构最为人所知的是蛋白质相互作用的中枢。2
MYOC, encoding the secreted protein myocilin, was the first gene linked to familial forms of primary open angle glaucoma (POAG). 1 “Myocilin glaucoma” is characterized by very high eye pressures due to reduced aqueous outflow through the trabecular meshwork and Schlemm's canal. Pathogenic variants are thought to lead to a toxic gain-of-function due to misfolding and intracellular aggregation of the mutant protein.A large number of MYOC mutations are now recognized (http://www. myocilin. com, in the public domain), primarily located within the C-terminal olfactomedin (OLF) domain. Recently the crystal structure of the MYOC OLF domain was solved, revealing its membership in the five-bladed β-propeller family. This structure is best known as a hub for protein–protein interactions. 2