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ENGLISH ABSTRACT
表观遗传调控在视网膜变性疾病中的应用
张华
庞继景 [综述]
作者及单位信息
·
DOI： 10.3760/cma.j.cn115989-20191015-00442
Epigenetic regulation and retinal degenerative diseases
Zhang Hua
Pang Jijing
Authors Info & Affiliations
Zhang Hua
The West China Institutes for Women and Children's Health, West China Second University Hospital, Sichuan University, Chengdu 610041, China
Pang Jijing
Department of Genetic Diseases, He Eye Specialist Hospital, Shenyang 110000, China
·
DOI： 10.3760/cma.j.cn115989-20191015-00442
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摘要

表观遗传是指在核苷酸序列不变的情况下发生的基因表达可遗传的改变。表观遗传调控机制多样，其中DNA甲基化、组蛋白修饰和非编码RNA调控研究较深入。表观遗传调控与多种人类疾病相关，在视网膜变性疾病发生或发展过程中，DNA甲基化、组蛋白乙酰化和非编码RNA调控等多种表观遗传调控方式发生改变。DNA甲基化是视网膜变性的重要调控方式之一，异常的DNA甲基化发生在视网膜色素变性(RP)、年龄相关性黄斑变性(AMD)、炎症及氧化应激等病变过程；组蛋白乙酰化与RP、糖尿病视网膜病变(DR)、青光眼、视网膜神经缺血性损伤等病变相关；非编码RNA与RP、AMD、病理性血管生成、DR等病变相关。本文就表观遗传调控在视网膜变性疾病中的应用做一综述。

表观遗传调控;DNA甲基化;组蛋白乙酰化;非编码RNA;视网膜变性
ABSTRACT

Epigenetics pertains to heritable alterations in gene expression when the nucleotide sequence remains unchanged.Epigenetic regulation mechanisms are diverse, among which DNA methylation, histone modification and non-coding RNA (ncRNA) regulation have been studied in depth.Epigenetic regulation is associated with a variety of human diseases.In the occurrence and development of retinal degenerative diseases, many epigenetic regulation processes such as DNA methylation, histone acetylation and ncRNA regulation have changed.DNA methylation is one of the important regulation processes in retinal degeneration.Aberrant DNA methylation patterns are associated with retinitis pigmentosa (RP), age-related macular degeneration (AMD), inflammation and oxidative stress.Histone acetylation is associated with RP, diabetic retinopathy (DR), glaucoma and retinal nerve ischemic injury.NcRNA is associated with RP, AMD, pathological angiogenesis, and DR.In this article, the application of epigenetic regulation in retinal degeneration was reviewed.

Epigenetic regulation;DNA methylation;Histone acetylation;Non-coding RNA;Retinal degeneration
Pang Jijing, Email: mocdef.labiamtohhpognapj
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张华,庞继景. 表观遗传调控在视网膜变性疾病中的应用[J]. 中华实验眼科杂志,2022,40(10)：981-985.

DOI:10.3760/cma.j.cn115989-20191015-00442

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表观遗传是指在基因核苷酸序列不发生改变的情况下，基因表达和功能发生了可遗传的变化，并最终导致表型的变化。虽然生物遗传信息主要受DNA序列调控，但也受表观遗传修饰调控，表观遗传调控方式多样，机体中DNA甲基化、组蛋白修饰、非编码RNA(non-coding RNA，ncRNA)调控是常见的表观遗传调控基因表达方式 [ 1 ]。随着人类表观基因组计划的深入研究，表观遗传学得到了飞速发展，目前已成为生物医学研究的一个热点领域。表观遗传修饰发生在癌症、神经系统疾病、心血管系统疾病、眼部疾病等多种人类疾病 [ 2 ]。广义的视网膜变性类疾病是一组以视网膜色素上皮细胞和光感受器细胞等视网膜神经元变性凋亡为主要特征的致盲性眼底疾病，包括视网膜色素变性(retinitis pigmentosa，RP)、年龄相关性黄斑变性(age-related macular degeneration，AMD)、糖尿病视网膜病变(diabetic retinopathy，DR)、青光眼等。表观遗传调控在视网膜变性疾病中起重要作用。本文将对主要表观遗传调控方式在视网膜变性疾病中的研究现状及未来展望做一介绍。
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备注信息
A
庞继景，Email： mocdef.labiamtohhpognapj
B
所有作者均声明不存在利益冲突
C
国家自然科学基金项目 (81600771、81970840、81371060)
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