国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2011, Vol. 30 ›› Issue (5): 391-393.

• 综述 • 上一篇    下一篇

多囊卵巢综合征的表观遗传学研究进展

王 婷,华克勤   

  1. 200011 上海，复旦大学附属妇产科医院
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2011-09-15 发布日期:2011-09-15

The Epigenetic Research on Polycystic Ovary Syndrome

WANG Ting， HUA Ke-qin   

  1. Obstetrics and Gynecology Hospital of Fudan University， Shanghai 200011， China
  • Received:1900-01-01 Revised:1900-01-01 Published:2011-09-15 Online:2011-09-15

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摘要： 多囊卵巢综合征（polycystic ovary syndrome， PCOS）的发病机制复杂，用遗传和环境因素都不能完好地解释。目前，表观遗传学在PCOS发生发展中的作用日益受到重视。表观遗传是指基因序列未发生改变，但是DNA的表达却发生了可遗传的变化，涉及DNA甲基化、组蛋白乙酰化、X染色体失活和基因组印迹等机制。DNA甲基化状态和X染色体失活模式的改变，将会影响雄激素受体基因、胰岛素基因的表达，从而致使雄激素活性发生变化，组蛋白去乙酰化酶抑制剂增加了CYP17和P450scc mRNA的积累，进一步增加了雄激素水平，最终导致PCOS的产生。综述PCOS的表观遗传学方面的研究

关键词: 多囊卵巢综合征, 遗传学, 医学, 动物, 基因修饰, 表观遗传, DNA甲基化, X染色体失活

Abstract: The etiology of polycystic ovary syndrome（PCOS） is not well known so far. Genetics and environment factors can not completely explain its pathogenesis. At present， it has been accepted that epigenetics is involved in the development and inheritance of PCOS. Epigenetic refers to change in gene expression other than in DNA sequence. Epigenetic modification involves DNA methylation， histone modification， X?-chromosone inactivation，genomic imprinting， and so on. DNA methylation status and X chromosome inactivation affect the expression of androgen receptor gene and insulin gene， which could change androgen activity. Histone deacetylase inhibitors increase the accumulation of CYP17 and P450scc mRNA， and further increase androgen level. All of them will eventually lead to PCOS pathogenesis.

Key words: Polycystic ovary syndrome, Genetics, medical, Animals, genetically, Epigenetics, DNA methylation, X chromosone inactivation