表观遗传学与视网膜疾病的关联研究

摘要

表观遗传学是指在DNA序列无变化的情况下,基因表达状态发生可遗传的改变的情况,是目前基因组测序后人类基因组的重大研究方向之一.表观遗传学的本质是表观遗传修饰,其对基因表达与功能的调节方式主要包括DNA甲基化、组蛋白乙酰化及非编码RNA,如小RNA(miRNA).研究认为,表观遗传学在多种视网膜疾病的发病过程中发挥重要作用,许多动物实验研究均表明,表观遗传学可能与视网膜纤维化、视网膜色素变性(RP)、年龄相关性黄斑变性(AMD)、糖尿病视网膜病变(DR)等视网膜疾病的发病均有重要关联.通过对表观遗传学认识的加深和理解,一些与表观遗传学相关的药物正在临床试验中,有望用于视网膜疾病的治疗.%Epigenetics refers to the changes of heritable gene expression without modification of DNA sequences which is one of major research interest of human genome study post gene era. Epigenetics may play an important role in the pathogenesis of retinal diseases. Epigenetics modification in the regulation of gene expression and function mainly includes DNA methylation,histone acetylation and non-coding RNA such as miRNA. The implication of epigenetics has been suggested with the pathogenesis of retinal fibrosis, retinitis pigmentosa, age-related macular degeneration and diabetic retinopathy. In addition, the epigenetics drug has potential to be used in the treatment of retinal diseases.