Gene expression pattern of IGF2, PHLDA2, PEG10 and CDKN1C imprinted genes in spontaneous miscarriages or foetal deaths

Abstract

Genomic imprinting is defined as an epigenetic modification that leads to parent-of-origin specific monoallelic expression. some current research on the foetal control growth has been focused on the study of genes that display imprinted expression in utero. Four imprinted genes, two paternally expressed (IGF2 and PEG10) and two maternally expressed (PHLDA2 and CDKN1C) are well known to play a role in foetal growth and placental development. pregnancy loss in the general reproductive population is a very common occurrence and other genetic causes beyond chromosomal abnormalities could be involved in spontaneous miscarriages or foetal deaths, such as alteration of expression in imprinted genes particularly those related to foetal or placental growth. Quantitative Real Time PCR was performed to evaluate gene expressions patterns of the four mentioned genes in spontaneous miscarriages or foetal deaths from 38 women. Expression levels of PHLDA2 gene were upregulated in the first trimester pregnancy cases and all four imprinted genes studied were upregulated in the second trimester of pregnancy cases comparing with controls. In third trimester PEG10 was downregulated in foetal samples group. This is the first study presenting data from human imprinted genes expression in spontaneous miscarriages or foetal deaths cases from the three trimesters of pregnancy. © 2010 Landes Bioscience.