表观遗传生物标志物在人类疾病早期诊治中的研究进展  

Research progress of epigenetic biomarkers in the early diagnosis and treatment of human diseases

作　　者：黎伟 秦俊[1] 汪晖[2,3] 陈廖斌 朱卫国[4] Wei li;Jun Qin;Hui Wang;Liaobin Chen(Department of Orthopedics, Zhongnan Hospital of Wuhan University, Wuhan 430071, China;Department of Pharmacology, Basic Medical School of Wuhan University, Wuhan 430071, China;Hubei Provincial Key Laboratory of Developmentally Originated Disease, Wuhan 430071, China)

机构地区：[1]武汉大学中南医院骨科,武汉430071 [2]武汉大学基础医学院药理学系,武汉430071 [3]湖北省发育源性疾病重点实验室,武汉430071 [4]不详

出　　处：《遗传》2018年第2期104-115,共12页Hereditas（Beijing)

基　　金：国家自然科学基金项目(编号:81220108026,81401832)

摘　　要：表观遗传修饰异常见于人类的多种疾病(如肿瘤、老年性疾病、发育源性疾病等),影响着这些疾病的发生发展。已有的研究表明,异常表观遗传改变可以作为疾病状态和疾病预测的生物标志物。表观遗传修饰改变的可逆性和可控性也为疾病早期的预防和治疗提供了新策略。本文对DNA甲基化修饰、组蛋白共价修饰、非编码RNA等三种表观遗传方式在肿瘤、老年性疾病和发育源性疾病的研究,以及三者作为表遗传生物标志物在疾病早期诊断和治疗的应用展开介绍,以期为肿瘤、老年性和发育源性相关疾病的诊断与治疗提供借鉴和参考。Abnormal epigenetic modifications are common in many diseases(such as tumors,senile and developmental diseases),and can influence the pathogenesis and progression of these diseases.Various studies demonstrated that abnormal epigenetic changes could be used as biomarkers for diagnosis of the disease status and prognosis of disease progression.The reversibility and controllability of epigenetic modifications also offer an opportunity to develop new strategies for the early prevention and treatment of diseases.In this review,we provide a brief overview of the latest discoveries in three areas of epigenetic research,i.e.,DNA methylation,histone modifications and non-coding RNAs,and their potential applications in early diagnosis and treatment of tumors,senile and developmental diseases.We hope to provide some insights and references in developing strategies for the diagnosis and treatment of these diseases.

关 键 词：表观遗传修饰 表遗传生物标志物 肿瘤 老年性疾病 发育源性疾病 

分 类 号：R394[医药卫生—医学遗传学]