A Study of Homocysteine Metabolism related Neural Tube Defect

Lee, Baeck Hee

Abstract

PURPOSE
Methylenetetrahydrofolate reductase is an important enzyme in homocysteine metabolism. Since the identification of the gene locus and mutation of methylenetetrahydrofolate reductase, an increasing number of reports have suggested that elevated levels of homocysteine were associated with various kinds of arteriovascular disease and neural tube defect. Our research plans to investigate whether elevated levels of homocysteine are more common with neural tube defect and their family as compared to a control group. Also we did this research to bring a better understanding of the interaction between genetic defect and nutrition.
METHODS
The study group consisted of 15 patients with meningomyelocele and 29 of their parents. The control group consisted of 9 children under 16 years without neural tube defect and 13 parents aged between 25 to 50 years who had given birth to, at least, one normal infant. We measured plasma homocysteine through a high performance liquid chromatography.
RESULTS
There was no significant elevation of plasma homocysteine in the neural tube defect group and their family compared to the control group. The homocysteine levels were elevated in male and with advanced age.
CONCLUSION
Our research demonstrated that the influence of environmental factors such as nutrition are also important as well as the genetic influence in homocysteine metabolism with neural tube defect.