Focus on Molecules: Myocilin/TIGR.
Focus on Molecules: Myocilin/TIGR.
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关注分子：Myocilin/TIGR。
DOI：
10.1016/j.exer.2005.06.014
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发表时间：
2005
期刊：
影响因子：
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通讯作者：
Tamm,ErnstR
中科院分区：
文献类型：
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作者：
Ricard,CynthiaS;Tamm,ErnstR
Myocilin/TIGR（登录号：核苷酸AH 006047，蛋白质NP_000252）是第一个发现导致某些形式的原发性开角型青光眼（POAG）的分子（更详细的综述参见Tamm，2002）。POAG是一种神经退行性疾病，其特征在于视盘的进行性杯状变、视神经乳头组织的重塑、视神经变性，以及如果不受控制则失明。眼压升高是青光眼的主要危险因素。由于小梁网（TM）中房水的流出阻力异常高，POAG患者的IOP升高。由于已知糖皮质激素治疗患者会增加IOP并导致类固醇诱导的青光眼，Jon Polansky及其同事研究了培养的TM细胞中地塞米松诱导的蛋白质。在这些研究过程中，发现了一种分子量为55- 57 kDa的分泌性糖蛋白，并命名为小梁网诱导的糖皮质激素反应蛋白（TIGR）。在Kubota及其同事的独立研究中，在视网膜中发现了相同的蛋白质，并命名为myocilin。随后，Stone及其同事发现myocilin/TIGR突变是定位于染色体1 q24的GLC 1A连锁开角型青光眼的病因。3-q25 2. (OMIM（601652）
Myocilin/TIGR(accession numbers: Nucleotide AH006047, Protein NP_000252) was the first molecule discovered to be causative for some forms of primary open angle glaucoma (POAG)(for a more detailed review see Tamm, 2002). POAG is a neurodegenerative disease characterized by progressive cupping of the optic disk, remodeling of the optic nerve head tissue, optic nerve degeneration, and, if uncontrolled, blindness. Elevated intraocular pressure (IOP) is the major risk factor for glaucoma. IOP is increased in patients with POAG because of an abnormally high outflow resistance for aqueous humor in the trabecular meshwork (TM). As treatment of patients with glucocorticoids was known to increase IOP and to cause steroid induced glaucoma, Jon Polansky and coworkers studied dexamethasone-induced proteins in cultured TM cells. In the course of these studies, a 55–57kDa secreted glycoprotein was discovered and named trabecular meshwork-induced glucocorticoid response protein (TIGR). In independent studies by Kubota and coworkers, the same protein was discovered in the retina and named myocilin. Subsequently, Stone and coworkers discovered that mutations in myocilin/TIGR were causative for GLC1A-linked open angle glaucoma mapped to chromosome 1q24. 3–q25. 2.(OMIM 601652)