Epigenetic disorders and male subfertility

Area of Science:

• Reproductive Biology
• Epigenetics
• Male Infertility

Background:

• Male subfertility is a complex condition with multifactorial causes.
• Epigenetic factors, including DNA methylation and histone modifications, play crucial roles in male gametogenesis and reproductive health.
• The paternal genome's contribution to fertilization and early embryo development is increasingly recognized.

Purpose of the Study:

• To establish a link between epigenetics and male subfertility.
• To investigate epigenetic alterations at the DNA, histone-protamine, and RNA levels.
• To understand the consequences of these epigenetic modifications on fertilization and embryo development.

Main Methods:

• A critical review of the relevant scientific literature was conducted.
• The review synthesized findings from university-based clinical and research laboratories.
• Studies included data from both fertile and infertile men.

Main Results:

• Infertile men exhibit modified epigenetic markers, including global and imprinted gene methylation changes (loss or gain).
• Spermatozoa from infertile men show increased histone retention and deficiencies in key spermatogenic transcripts.
• These epigenetic abnormalities are interconnected, with DNA methylation maintenance influenced by DNA-histone-protamine configuration stabilized by spermatozoal RNAs.

Conclusions:

• Epigenetic processes are critical for male fertility and successful embryo development.
• The paternal genome is not silent but actively participates in early embryonic stages through epigenetic mechanisms.
• Understanding these epigenetic links is vital for addressing male subfertility.