Epigenetics and its role in male infertility

J Assist Reprod Genet. 2012 Mar;29(3):213-23. doi: 10.1007/s10815-012-9715-0.

Abstract

Male infertility is a common and complex problem affecting 1 in 20 men. Despite voluminous research in this field, in many cases, the underlying causes are unknown. Epigenetic factors play an important role in male infertility and these have been studied extensively. Epigenetic modifications control a number of processes within the body, but this review will concentrate on male fertility and the consequences of aberrant epigenetic regulation/modification. Many recent studies have identified altered epigenetic profiles in sperm from men with oligozoospermia and oligoasthenoteratozoospermia. During gametogenesis and germ cell maturation, germ cells undergo extensive epigenetic reprogramming that involves the establishment of sex-specific patterns in the sperm and oocytes. Increasing evidence suggests that genetic and environmental factors can have negative effects on epigenetic processes controlling implantation, placentation and fetal growth. This review provides an overview of the epigenetic processes (histone-to-protamine exchange and epigenetic reprogramming post-fertilization), aberrant epigenetic reprogramming and its association with fertility, possible risks for ART techniques, testicular cancer and the effect of environmental factors on the epigenetic processes.

Publication types

  • Review

MeSH terms

  • Animals
  • Asthenozoospermia / chemically induced
  • Asthenozoospermia / genetics
  • Asthenozoospermia / metabolism
  • Asthenozoospermia / physiopathology
  • Embryonic Development*
  • Epigenesis, Genetic*
  • Gene Expression Regulation, Developmental
  • Gene-Environment Interaction
  • Humans
  • Infertility, Male / diet therapy
  • Infertility, Male / etiology
  • Infertility, Male / metabolism*
  • Infertility, Male / therapy
  • Male
  • Oligospermia / chemically induced
  • Oligospermia / genetics
  • Oligospermia / metabolism
  • Oligospermia / physiopathology
  • Protamines / metabolism
  • Reproductive Techniques, Assisted
  • Spermatogenesis*
  • Spermatozoa / metabolism
  • Testicular Neoplasms / metabolism
  • Testicular Neoplasms / physiopathology

Substances

  • Protamines