男性不育症的表观遗传学研究进展

Epigenetics of male infertility:An update

大约60%~65%的男性不育症是特发性的,尽管其具体病因尚未明了,但遗传因素起着重要作用。研究表明,表观遗传修饰,包括DNA甲基化、翻译后组蛋白修饰、染色质重塑等,在特发性男性不育中均起到一定的作用。此外,全甲基化异常和特定区域甲基化异常均与精子质量低下、生育能力下降有关;已确认1 881种miRNA与男性生育功能相关;piRNA、IncRNA、circRNA等非编码RNA也在男性生殖中发挥调控作用。本文针对表观遗传学在男性不育症病因中所起的作用、将来可能的治疗策略等方面做一综述,为阐明男性不育的发生机制、建立新的诊治方法和预测工具等提供相关的研究基础。

Epigenetic factors play an important role in male infertility though about 60% -65% of the disease is idiopathic and its underlying causes are not yet clear. Many studies have indicated that epigenetic modifications, including DNA methylation, histone tail modifications, chromatin remodeling, and non-coding RNAs, may be involved in idiopathic male infertility. Abnormal methylation is associated with decreased sperm quality and fertility. It is known that 1 881 miRNAs are related to male fertility and such non-coding RNAs as piRNA, IncRNA, and circRNA play a regulating role in male reproduction. This review focuses on the value of epigeneties in the etiology and pathogenesis of male infertility, aiming to provide some evidence for the establishment of some strategies for the treat- ment and prediction of the disease.