World J Mens Health.  2019 May;37(2):148-156. 10.5534/wjmh.180071.

Epigenetics of Male Fertility: Effects on Assisted Reproductive Techniques

• Giacone F
• Cannarella R
• Mongioì L
• Alamo A
• Condorelli RA
• Calogero A
• La Vignera S

• KMID: 2443230
• DOI: http://doi.org/10.5534/wjmh.180071

Abstract

During the last decades the study of male infertility and the introduction of the assisted reproductive techniques (ARTs) has allowed to understand that normal sperm parameters do not always predict fertilization. Sperm genetic components could play an important role in the early stages of embryonic development. Based on these acquisitions, several epigenetic investigations have been developed on spermatozoa, with the aim of understanding the multifactorial etiology of male infertility and of showing whether embryonic development may be influenced by sperm epigenetic abnormalities. This article reviews the possible epigenetic modifications of spermatozoa and their effects on male fertility, embryonic development and ART outcome. It focuses mainly on sperm DNA methylation, chromatin remodeling, histone modifications and RNAs.

Keyword

Epigenomics; Infertility; Infertility, male; Reproductive techniques, assisted

MeSH Terms

Chromatin Assembly and Disassembly
DNA Methylation
Embryonic Development
Epigenomics*
Female
Fertility*
Fertilization
Histone Code
Humans
Infertility
Infertility, Male
Male*
Pregnancy
Reproductive Techniques, Assisted*
RNA
Spermatozoa
RNA

Figure

• 

  Fig. 1 Possible influence of H19/IGF2 expression on male fertility. (A) In the paternal allele of healthy fertile men, H19 DMR methylation leads to IGF2 expression. The repression of H19 transcription increase IGF1R expression. Both IGF2 and IGF1R transcripts are involved in sperm capacitation, embryo and placental growth. (B) In infertile men, low H19 DMR methylation rates lead to repression of both IGF2 and IGF1R transcription, thus negatively impacting on sperm capacitation, embryo and placental growth. H19: Imprinted maternally expressed non-coding transcript, IGF2: insulin-like growth, DMR: differentially methylated region, IGF1R: insulin-like growth factor 1 receptor, factor 2.

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