Abstract
In recent years, a number of studies focused on the role of epigenetics, including DNA methylation, in spermatogenesis and male infertility. We aimed to provide an overview of the knowledge concerning the gene and genome methylation and its regulation during spermatogenesis, specifically in the context of male infertility etiopathogenesis. Overall, the findings support the hypothesis that sperm DNA methylation is associated with sperm alterations and infertility. Several genes have been found to be differentially methylated in relation to impaired spermatogenesis and/or reproductive dysfunction. Particularly, DNA methylation defects of MEST and H19 within imprinted genes and MTHFR within non-imprinted genes have been repeatedly linked with male infertility. A deep knowledge of sperm DNA methylation status in association with reduced reproductive potential could improve the development of novel diagnostic tools for this disease. Further studies are needed to better elucidate the mechanisms affecting methylation in sperm and their impact on male infertility.
Highlights
Male infertility affects about 15% of couples worldwide (Agarwal et al, 2015)
Dysregulations in the DNA methylation process during spermatogenesis can result in the abnormal expression of target genes, which may lead to infertility (Cho et al, 2003; Aston et al, 2012)
This review provides an overview on gene and genome methylation and its regulation during spermatogenesis and the current knowledge of those DNA methylation defects potentially involved in the etiopathogenesis of male infertility
Summary
Male infertility affects about 15% of couples worldwide (Agarwal et al, 2015). In reproductive age, approximately 7% of males suffer from infertility (Cooper et al, 2009; Krausz, 2011; Rotondo et al, 2013). Anatomical and genetic abnormalities as well as infections of the genital tract can affect the male reproductive potential (Abrao et al, 2013; Stouffs et al, 2014). Dysregulations in the DNA methylation process during spermatogenesis can result in the abnormal expression of target genes, which may lead to infertility (Cho et al, 2003; Aston et al, 2012). While many epigenetic abnormalities causing male reproductive dysfunction are still unknown, it is likely that most cases of idiopathic infertility could be accounted for underlying DNA methylation mechanisms (Rose and Klose, 2014). This review provides an overview on gene and genome methylation and its regulation during spermatogenesis and the current knowledge of those DNA methylation defects potentially involved in the etiopathogenesis of male infertility
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