Epigenetics and Male Infertility

Abstract

Epigenetics is the study of alterations in gene expression that do not involve changes to the underlying DNA sequence. Epigenetic changes are natural and common and are influenced by age, environment, lifestyle, and illness. Epigenetic modifications underlie normal development and also pathologic diseases such as cancer, autoimmunity, and infertility. Abnormal sperm epigenetic profiles appear to correlate not only with semen analysis parameters but also with reproductive competence as defined by embryo quality and miscarriage rates. Sperm epigenetic profiles also change with paternal age and are influenced by paternal lifestyle choices. As sperm epigenetic patterns are heritable, there is the potential for both intergenerational transmission of disease to offspring as well as transgenerational implications for grandchildren.