Methylation status of imprinted genes DLK1-GTL2, MEST (PEG1), ZAC (PLAGL1), and LINE-1 elements in spermatozoa of normozoospermic men, unlike H19 imprinting control regions, is not associated with idiopathic recurrent spontaneous miscarriages

Fertil Steril. 2013 May;99(6):1668-73. doi: 10.1016/j.fertnstert.2013.01.107. Epub 2013 Feb 14.

Abstract

Objective: To study methylation aberrations in spermatozoa at developmentally important imprinted regions to ascertain their role in early embryo loss in idiopathic recurrent spontaneous miscarriages (RSM).

Design: Case-control study.

Setting: Academic research setting at National Institute for Research in Reproductive Health, Parel, Mumbai.

Patient(s): Male partners of couples with a history of RSM and male partners of couples with proven fertility (control group).

Intervention(s): None.

Main outcome measure(s): DNA methylation levels at imprinting control regions of DLK1-GTL2, MEST (PEG1), and ZAC (PLAGL1) by Epityper Massarray and global methylation levels as measured by LINE-1 methylation and anti-5-methyl cytosine antibody in spermatozoa of 23 men in control group and 23 men in RSM group.

Result(s): We did not observe any aberration in the total methylation levels in any of the imprinted genes or global methylation analyzed.

Conclusion(s): Our results indicate that paternal methylation aberrations at imprinting control regions of DLK1-GTL2, MEST (PEG1), and ZAC (PLAGL1) and global methylation levels are not associated with idiopathic RSM and may not be good epigenetic markers (unlike the H-19 imprinting control region) for diagnosis of idiopathic RSM.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abortion, Habitual / epidemiology
  • Abortion, Habitual / genetics*
  • Abortion, Habitual / metabolism
  • Calcium-Binding Proteins
  • Case-Control Studies
  • Cell Cycle Proteins / genetics
  • Cell Cycle Proteins / metabolism
  • DNA Methylation / genetics*
  • Female
  • Genetic Markers / genetics*
  • Genomic Imprinting / genetics*
  • Humans
  • Intercellular Signaling Peptides and Proteins / genetics
  • Intercellular Signaling Peptides and Proteins / metabolism
  • Long Interspersed Nucleotide Elements / genetics
  • Male
  • Membrane Proteins / genetics
  • Membrane Proteins / metabolism
  • Pregnancy
  • Proteins / genetics
  • Proteins / metabolism
  • RNA, Long Noncoding / genetics
  • RNA, Long Noncoding / metabolism
  • Spermatozoa / physiology*
  • Transcription Factors / genetics
  • Transcription Factors / metabolism
  • Tumor Suppressor Proteins / genetics
  • Tumor Suppressor Proteins / metabolism

Substances

  • Calcium-Binding Proteins
  • Cell Cycle Proteins
  • DLK1 protein, human
  • Genetic Markers
  • Intercellular Signaling Peptides and Proteins
  • MEG3 non-coding RNA, human
  • Membrane Proteins
  • PLAGL1 protein, human
  • Proteins
  • RNA, Long Noncoding
  • Transcription Factors
  • Tumor Suppressor Proteins
  • mesoderm specific transcript protein