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Molecular and Experimental Biology in Medicine, Vol. 2 No. 1, 2019.

Original scientific paper

LINE-1 DNA METHYLATION AND CONGENITAL HEART DEFECTS IN DOWN SYNDROME

Jadranka Vranekovic ; Department of Medical Biology and Genetics, School of Medicine, University of Rijeka, Rijeka, Croatia
Ivana Babic Bozovic ; Department of Medical Biology and Genetics, School of Medicine, University of Rijeka, Rijeka, Croatia
Maja Zivkovic ; Vinča Institute of Nuclear Sciences, Laboratory for Radiobiology and Molecular Genetics, University of Belgrade, Belgrade, Serbia
Aleksandra Stankovic ; Vinča Institute of Nuclear Sciences, Laboratory for Radiobiology and Molecular Genetics, University of Belgrade, Belgrade, Serbia
Bojana Brajenovic Milic ; Department of Medical Biology and Genetics, School of Medicine, University of Rijeka, Rijeka, Croatia

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Abstract

DNA methylation is a key epigenetic mechanism that plays a significant role in regulating gene activity during cardiac development. Congenital heart defects (CHD) are one of the most common abnormalities occurring in 40% -60% of cases with Down syndrome (DS). The main aim of this study was to establish the association of long interspersed nucleotide element-1 (LINE-1) DNA methylation in children with DS and the presence of CHD. The LINE-1 DNA methylation was investigated in peripheral blood lymphocytes on a sample of 42 people with DS by quantification of LINE-1 methylation using the MethyLight method. No significant differences in global DNA methylation were found according to the presence of CHD (P=1.000), but values of LINE-1 DNA methylation were significantly influenced by gender (R2=19.1%; P=0.025). Significant probability of 19.1% was found in women with DS who had lower LINE-1 DNA methylation values than DS male. Gender was a statistically significant predictor of LINE-1 DNA methylation, although the difference was not statistically significant, female subjects had lower LINE-1 DNA methylation values (P=0.068). Further research will clarify the role of lower LINE-1 DNA methylation in the formation of CHD among DS females.

Keywords

long interspersed nucleotide element-1 (LINE-1) DNA methylation; congenital heart defects; Down syndrome

Hrčak ID:

224342

URI

https://hrcak.srce.hr/224342

Publication date:

4.4.2019.

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