Homocysteine and oxidative stress in Egyptian children with Down syndrome

Nagwa A Meguid1, Ahmed A Dardir, Eman M El-Sayed

  • 1Research on Children with Special Needs Dept., National Research Centre, Egypt.

Insights

Mothers with a history of Down syndrome (DS) births show altered folic acid-homocysteine metabolism and oxidative stress. These metabolic changes may indicate risk for bearing a DS child.

Area of Science:

  • Biochemistry
  • Genetics
  • Maternal-Fetal Medicine

Background:

  • Down syndrome (DS) is a genetic disorder associated with specific biochemical alterations.
  • Maternal health and nutritional status may play a role in the occurrence of DS.

Purpose of the Study:

  • To investigate homocysteine, folic acid, vitamin B12, trace element levels, and oxidant/antioxidant status in mothers and children affected by Down syndrome.
  • To identify potential biomarkers for predicting the risk of having a child with DS.

Main Methods:

  • A case-control study involving 42 mothers with a history of DS and their children, compared to 48 healthy control mothers and their children.
  • Serum levels of vitamin B12, folic acid, total homocysteine (tHcy), vitamins E and C, TBARS (thiobarbituric acid reactive substances), and trace elements were measured.

Main Results:

  • DS mothers exhibited higher tHcy and lower folic acid and vitamin B12 levels compared to controls.
  • DS mothers showed reduced levels of vitamins E and C, zinc, and copper, with elevated TBARS, indicating oxidative stress.
  • DS children displayed decreased tHcy and folic acid, with significant reductions in vitamin C and zinc levels.

Conclusions:

  • Abnormal folic acid-homocysteine metabolism is a significant indicator for women at risk of having a child with Down syndrome.
  • The observed oxidant/antioxidant imbalance in mothers and children with DS highlights potential therapeutic targets.
Abstract