Journal of Research in Medical Sciences (Jun 2007)

Homocysteine, an indicator of methylation pathway alternation in Down syndrome and its regulation by folic acid therapy

  • Hala M El-Gendy,
  • Hala M Mokhtar

Journal volume & issue
Vol. 12, no. 2
pp. 86 – 89

Abstract

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<font face="TimesNewRoman,Bold" size="1"><p align="left"><strong>BACKGROUND: </strong><font face="TimesNewRoman" size="2">Down syndrome (DS) is a complex genetic disease. Some clinical features of patients with this syndrome could be related to functional folate deficiency. The purpose of this study was to evaluate the total homocysteine (T-Hcy) metabolism in DS children and to determine whether the supplementation with folic acid therapy would shift the genetically induced metabolic imbalance or not.</font></p></font><font face="TimesNewRoman,Bold" size="1"><p align="left"><strong>METHODS: </strong><font face="TimesNewRoman" size="2">Thirty-five infants with DS, with the mean age of 17.66 &plusmn; 12.24 months were included in this study. They were selected from those attending the Genetic Outpatients Clinic in Children hospital</font><font face="Arial,Bold" size="2">.</font></p></font><p align="left"><strong><font face="TimesNewRoman,Bold" size="1">RESULTS: </font></strong><font face="TimesNewRoman" size="2">Our results revealed that Down syndrome children had a significant decrease in serum plasma T-Hcy level after the treatment with folic acid [11.79 &plusmn; 0.92 vs. 14.41 &plusmn; 4.93 &mu;mol/L]. A significant negative correlation was found between T-Hcy and folic acid serum levels [r = -0.112; P&lt;0.05].</font></p><strong><font face="TimesNewRoman,Bold" size="1">CONCLUSIONS: </font></strong><font face="TimesNewRoman" size="2">We concluded that the regulation of methylation pathways in Down syndrome patients becomes important in the light of possible normalization of the metabolic imbalance and the detection of increased sensitivity to therapeutic interventions</font><font face="TimesNewRoman,Bold" size="2"><strong>.</strong></font><font face="TimesNewRoman,Bold" size="1"><strong> </strong><p align="left"><strong>KEY WORDS: </strong><font face="TimesNewRoman" size="2">Down syndrome, hyperhomocysteine, folic acid, vitamin B-12.</font></p></font>

Keywords