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

Spermatozoa of normozoospermic men in idiopathic recurrrent spontaneous miscarriage do not reveal aberrations in DNA methylation at intergenic differentially methylated regions, MEST, ZAC, and LINE-1 CpG islands.


Mandar Ankolkar, M.Sc., Vinita Salvi, M.D., Himangi Warke, M.D., Babu Rao Vundinti, Ph.D., N. H. Balasinor, Ph.D.

Volume 99, Issue 6, Pages 1668-1673.e2, May 2013



To study methylation aberrations 1 in spermatozoa at developmentally important imprinted regions to ascertain their role in early embryo loss in idiopathic Recurrent Spontaneous Miscarriages (RSM).


Case-Control Study.


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


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



Main Outcome Measure(s):

DNA methylation levels at imprinting control Regions of DLK1- GTL2, MEST(PEG1), 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 from Control group and 23 men from RSM group.


We did not observe any aberration in the total methylation levels in any of the imprinted genes or global methylation analyzed.


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.

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