阿尔茨海默病(Alzheimer’s disease,AD)又称老年痴呆症,是老年人中发病率最高的神经退行性疾病之一,以记忆和认知功能损伤为主要特征。AD与表观遗传学如DNA甲基化联系紧密。通常,基因启动子区域DNA高甲基化会抑制相关基因的表达。目前研究表明,诸多因素通过影响DNA甲基化修饰显著增加AD的患病风险,如环境、年龄及AD相关疾病。AD相关基因的DNA甲基化修饰研究已取得较大的进展,测试外周血中基因DNA甲基化修饰差异可为AD的预测、诊断及治疗开辟新的途径。该文就最近相关的DNA甲基化研究进展进行了系统阐述。
Alzheimer's disease(AD) is one of the most common types of neurodegenerative diseases in the elderly.AD is characterized by progressive memory and cognitive dysfunction.The pathogenesis of AD is complex and contributed by both genetic and environmental factors.AD is closely linked with epigenetic modifications which comprise DNA methylation.Generally,gene expression will be down-regulated by promoter hypermethylation.Recent studies have found that multiple factors might exert their infl uences on the risk of AD by the changes of DNA methylation,such as environment,age and AD related diseases.Recently,AD related DNA methylation research has made great progress.Testing for aberrant DNA methylation in peripheral blood may be potentially applied for the prediction,diagnosis and treatment of AD.This review provides a systemic landscape of recent AD related DNA methylation studies.