Myocilin蛋白在小梁网组织中的作用

Myocilin基因是与原发性开角型青光眼成因有关的基因。其蛋白产物myocilin蛋白是一种分泌型糖蛋白，具有特征性区域：N端亮氨酸拉链区，中央链接区，C端类嗅质蛋白（嗅素）区。眼组织中，小梁网myocilin蛋白表达水平最高且在细胞内外均可检测到。细胞内myocilin蛋白由小梁网细胞以外泌体样囊泡形式释放至胞外，突变时分泌受阻并异常聚集，使细胞致敏诱发凋亡。细胞外myocilin蛋白通过与一种或多种细胞外基质蛋白相互作用影响细胞的形态、粘接、迁移活动，调节细胞外基质的成分和结构，从而影响房水流出系统。

Function of Myocilin in Trabecular Meshwork

Myocilin gene is associated with primary open-angle glaucoma （POAG） . The product of myocilin is a secreted glycoprotein. Characteristic structural motifs include a leucine zipper re gion, a central linker region and an olfactomedin domain. In the eye, myocilin is expressed highest in the trabecular meshwork （TM） . Both intracellular and extracellular expression can be detec- ted. Myocilin is released from TM cells to extracellular region with exosomes. Mutations of myocilin are secretion-incompetent and aggregate in the cells, subsequently inducing endoplasmic reticulum response, damaging the structure and function of mitochondria, and sensitizing cells to apoptosis. Extracelhdar myocilin present in the matrix affects adhesion, morphology, and migratory of human TM cells. Myocilin can regulate the composition and structure of the extracellular matrix, play an extracellular function and impact the normal aqueous outflow. This article reviews gene and protein of myocilin and their relationship with TM.