国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2016, Vol. 35 ›› Issue (4): 327-330.

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多囊卵巢综合征的表观遗传学机制研究进展

曹羽明，张元珍   

  1. 430071 武汉大学中南医院妇产科
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2016-07-15 发布日期:2016-07-15
  • 通讯作者: 张元珍

Research Progress of Epigenetic Mechanism of Polycystic Ovary Syndrome

CAO Yu-ming，ZHANG Yuan-zhen   

  1. Department of Obstetrics and Gynecology，Zhongnan Hospital of Wuhan University，Wuhan 430071，China
  • Received:1900-01-01 Revised:1900-01-01 Published:2016-07-15 Online:2016-07-15
  • Contact: ZHANG Yuan-zhen

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摘要： 遗传和环境等多种因素共同参与多囊卵巢综合征（PCOS）的发生与发展，两种因素交互作用所导致的临床表现可以用表观遗传修饰加以解释，但其具体作用机制还存在很多未知。表观遗传学是在DNA碱基序列不变的前提下引起的基因表达或细胞表观型变化的一种遗传现象，与PCOS发病相关的表观遗传修饰包括DNA甲基化、X染色体失活、组蛋白修饰、基因组印迹及非编码RNA调控等。微小RAN（miRNAs）在卵巢组织广泛表达，在卵巢功能调节中发挥重要作用，参与细胞增殖、分化、凋亡等多种生物学过程，因此与PCOS的发生密切相关。探索表观遗传学在PCOS发病机制中的作用，为PCOS的预防、诊断与治疗提供新的思路。

关键词: 多囊卵巢综合征, 后成说, 遗传, DNA甲基化, 基因组印迹

Abstract: Multiple factors of heritability and environment conjointly participate in the pathomechanism of polycystic ovary syndrome (PCOS). The complicated manifestations of PCOS could be related with the epigenetic modification, and the detailed mechanism needs more studies. The epigenetic modifications related to the development of PCOS include DNA methylation, X chromosome inactivation, histone modification, genomic imprinting, non-coding RNA regulation, and so on. For example, those miRNAs expressed abundantly in ovarian tissue play important roles in regulating ovarian function, which participate in multiple biological events including cell proliferation, differentiation, apoptosis and cell death. To explore the effect of epigenetics in the pathogenesis of PCOS can provide us new references for the basic research and clinical practice of PCOS in future.

Key words: Polycystic ovary syndrome, Epigenesis, genetic, DNA methylation, Genomic imprinting