Epigenetics in reproductive medicine

Imprinted genes comprise a small subset of the genome whose epigenetic reprogramming in the germ line is necessary for subsequent normal embryonic development. This reprogramming and resetting of the imprints, through an erasure/acquisition/maintenance cycle, is a subtle and tightly orchestrated phenomenon, involving specific genomic regions and methylation enzymes. Dysregulation of imprinted genes has indeed been shown to lead to several human disorders as well as to affect placental and fetal growth. There have been numerous and conflicting studies assessing the possible association of imprinting disorders with assisted reproductive techniques. This work analyzes all relevant and available reports with regard to the association between assisted reproductive techniques and imprinting disorders. It also discusses whether this possibly increased risk of imprinting disorders may be linked to specific steps of these reproductive techniques or already present in the gametes of infertile patients. A better understanding of epigenetic reprogramming in the germ line is absolutely necessary both to assess the safety of these methods and of the use of impaired spermatogenesis gametes for assisted reproduction.