DNA甲基化在复发性流产病因中的研究进展

DNA Methylation and Recurrent Spontaneous Abortion

复发性流产(recurrent spontaneous abortion,RSA)是一种常见病理性妊娠,其中有约50%的患者病因和发病机制不明确。随着表观遗传学研究领域的发展,尤其是近年来DNA甲基化的研究,为RSA的病理生理机制提供了一个新视角。研究发现,基因DNA甲基化的功能缺陷、DNA的甲基化修饰调控及DNA甲基化介导的其他表观遗传修饰方式与RSA密切相关,印迹基因DNA甲基化、胎盘特有基因DNA甲基化以及精子DNA甲基化异常都直接或间接地影响胚胎的着床、生长及发育过程,最终导致RSA的发生。现阐述DNA甲基化在RSA发生、发展中的作用及其研究进展。

Recurrent spontaneous abortion（RSA） is a common pathological pregnancy, in which 50% of the etiology and pathogenesis are unknown. In recent years, the development of epigenetics, especially the study of DNA methylation, provides a new perspective for the pathogenesis of RSA. The study found that the defects of DNA methylation, methylational modification and the other epigenetic modification related to DNA methylation were associated with RSA. The abnormalities of DNA methylation in the imprinted genes, the placenta specific genes and sperm DNA may directly or indirectly affect the implantation, growth and development of embryo,involving in RSA. This review summarizes the research progress of DNA methylation in pathogenesis of RSA.