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Insights into the regulatory molecules involved in glaucoma pathogenesis.
American Journal of Medical Genetics Seminars in Medical Genetics, Part C ( IF 2.8 ) Pub Date : 2020-09-16 , DOI: 10.1002/ajmg.c.31833
Hamidreza Moazzeni 1 , Marzieh Khani 1 , Elahe Elahi 1
Affiliation  

Glaucoma is an important cause of irreversible blindness, characterized by optic nerve anomalies. Increased intraocular pressure (IOP) and aging are major risk factors. Retinal ganglion cells and trabecular meshwork cells are certainly involved in the etiology of glaucoma. Glaucoma is usually a complex disease, and various genes and functions may contribute to its etiology. Among these may be genes that encode regulatory molecules. In this review, regulatory molecules including 18 transcription factors (TFs), 195 microRNAs (miRNAs), 106 long noncoding RNAs (lncRNAs), and two circular RNAs (circRNAs) that are reasonable candidates for having roles in glaucoma pathogenesis are described. The targets of the regulators are reported. Glaucoma‐related features including apoptosis, stress responses, immune functions, ECM properties, IOP, and eye development are affected by the targeted genes. The targeted genes that are frequently targeted by multiple regulators most often affect apoptosis and the related features of cell death and cell survival. BCL2, CDKN1A, and TP53 are among the frequent targets of three types of glaucoma‐relevant regulators, TFs, miRNAs, and lncRNAs. TP53 was itself identified as a glaucoma‐relevant TF. Several of the glaucoma‐relevant TFs are themselves among frequent targets of regulatory molecules, which is consistent with existence of a complex network involved in glaucoma pathogenesis.

中文翻译:

深入了解青光眼发病机理中涉及的调节分子。

青光眼是不可逆性失明的重要原因,其特征是视神经异常。眼内压(IOP)升高和衰老是主要的危险因素。视网膜神经节细胞和小梁网状细胞肯定与青光眼的病因有关。青光眼通常是一种复杂的疾病,各种基因和功能可能有助于其病因。其中可能是编码调节分子的基因。在这篇综述中,描述了包括18个转录因子(TF),195个microRNA(miRNA),106个长非编码RNA(lncRNA)和两个环状RNA(circRNA)的调节分子,它们是在青光眼发病机理中的合理候选者。报告了监管机构的目标。与青光眼有关的特征,包括凋亡,应激反应,免疫功能,ECM特性,眼压,和眼睛发育受目标基因的影响。经常被多个调节子靶向的靶向基因最常影响细胞凋亡以及细胞死亡和细胞存活的相关特征。BCL2CDKN1ATP53是与青光眼相关的三种调节剂TF,miRNA和lncRNA的常见靶标。TP53本身被确定为与青光眼有关的TF。一些与青光眼有关的TF本身是调节分子的常见靶点,这与青光眼发病机制中涉及的复杂网络的存在是一致的。
更新日期:2020-09-24
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