Methylation status of imprinted genes 1 DLK1 GTL2 MEST PEG1 ZAC PLAGL1 and LINE 1 elements in spermatozoa of normozoospermic men unlike H19 ICR is not associated with idiopathic recurrent spontaneous miscarriages

Capsule:
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.

Authors:
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

Abstract:

Objective:
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).

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), 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.

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.

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