Laboratory of Human Genetics, Center for Molecular Biology and Genetic Engineering (CBMEG), University of Campinas (UNICAMP), Campinas-SP 13083-875, Brazil.
Molecules. 2011 Jun 27;16(7):5402-21. doi: 10.3390/molecules16075402.
MYOC encodes a secretary glycoprotein of 504 amino acids named myocilin. MYOC is the first gene to be linked to juvenile open-angle glaucoma (JOAG) and some forms of adult-onset primary open-angle glaucoma (POAG). The gene was identified as an up-regulated molecule in cultured trabecular meshwork (TM) cells after treatment with dexamethasone and was originally referred to as trabecular meshwork-inducible glucocorticoid response (TIGR). Elevated intraocular pressure (IOP), due to decreased aqueous outflow, is the strongest known risk factor for POAG. Increasing evidence showed that the modulation of the wild-type (wt) myocilin protein expression is not causative of glaucoma while some misfolded and self-assembly aggregates of mutated myocilin may be associated with POAG in related or unrelated populations. The etiology of the disease remains unclear. Consequently, a better understanding of the molecular mechanisms underlying POAG is required to obtain early diagnosis, avoid potential disease progression, and develop new therapeutic strategies. In the present study, we review and discuss the most relevant studies regarding structural characterizations, expressions, molecular interactions, putative functions of MYOC gene and/or its corresponding protein in POAG etiology.
MYOC 编码一种 504 个氨基酸的分泌糖蛋白，名为肌球蛋白。MYOC 是第一个与青少年开角型青光眼（JOAG）和一些成人开角型青光眼（POAG）有关的基因。该基因在经过地塞米松处理的培养的小梁网（TM）细胞中被鉴定为上调分子，最初被称为小梁网诱导糖皮质激素反应（TIGR）。眼压（IOP）升高，由于房水流出减少，是 POAG 最强的已知危险因素。越来越多的证据表明，野生型（wt）肌球蛋白蛋白表达的调节不是青光眼的原因，而一些突变肌球蛋白的错误折叠和自组装聚集体可能与相关或不相关人群中的 POAG 有关。该疾病的病因仍不清楚。因此，需要更好地了解 POAG 背后的分子机制，以便进行早期诊断、避免潜在的疾病进展并开发新的治疗策略。在本研究中，我们回顾和讨论了关于 MYOC 基因及其在 POAG 发病机制中的相应蛋白的结构特征、表达、分子相互作用、假定功能的最相关研究。
