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DNA methylation defects in spermatozoa of male partners from couples experiencing recurrent pregnancy loss

Human Reproduction Jan 18, 2021

Khambata K, Raut S, Deshpande S, et al. - Researchers aimed at reporting the sperm DNA methylation status of imprinted genes in male partners from couples experiencing recurrent pregnancy loss (RPL: loss of two or more pregnancies). In this case–control study, they recruited 112 couples undergoing RPL with no identifiable cause and the control group included 106 healthy proven fertile couples with no history of infertility or miscarriage. The paternal genetic and epigenetic factors that could be linked with RPL were investigated in this study. Findings suggested RPL to be linked with aberrations in sperm DNA methylation status of several imprinted genes, such as insulin like growth factor-2-H19 differentially methylated region (IGF2-H19 DMR), intergenic differentially methylated region (IG-DMR), mesoderm specific transcript (MEST), zinc finger protein which regulates apoptosis and cell cycle arrest (ZAC), DMR in intron 10 of KCNQ1 gene (KvDMR), paternally expressed gene 3 (PEG3) and paternally expressed gene 10 (PEG10), as well as with reduced sperm global 5-methylcytosine (5mC) levels.

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