Epimutations and male infertility

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Spermatogenesis is a complex process of mitotic and meiotic cell divisions, cell differentiation and cell-cell interactions finally leading to the formation of haploid spermatozoa. The importance of DNA methylation for spermatogenesis has been reported, indicating that alterations in DNA methylation could induce spermatogenic impairment. Idiopathic male infertility affects approx. 30% of infertile men, suggesting the involvement of epigenetic modifications as one possible cause. We will investigate whether faulty methylation imprints (epimutations) are a underlying cause of male infertility. For this we will screen the methylation patterns of two paternally and one maternally imprinted gene as well as one X chromosomal and one germ cell-specific gene in bisulphite treated DNA from blood and semen samples of fertile and infertile men. The results will clarify whether epigenetic processes have a substantial impact on male infertility. Moreover, this study will have implications with respect to the hypothesis that epimutations of male germ cells contribute to the observed effects in children obtained by ART.