OPEN OR CLOSED - A WORLD OF DIFFERENCE - A HISTORY OF HOMOCYSTEINE RESEARCH

This article presents the research of the Nijmegen homocysteine team o n birth defects and vascular disease. Hyperhomocysteinemia was found i n women who gave birth to offspring with neural tube defects (NTDs) an d other birth defects and in women with vascular disease. Elevated hom ocysteine levels in the blood plasma can be explained by lack of B vit amins (folic acid), mutation of the 5, 11-methylenetetrahydrofolate re ductase (MTHFR) genes, or both. Genetic mutations were found on the fi rst chromosome (677 C T and 1298 A-C) and can explain up to 50% of the protective effect of folic acid against NTDs. The inborn error of met hionine-homocysteine metabolism was also found in cases with recurrent early pregnancy loss, schisis, congenital heart defects, and vascular problems such as placental abruption, infarcts, and fetal growth reta rdation. One of the most exciting medical findings of recent years is that folic acid can prevent NTDs. This might also hold true for other birth defects and vascular disease.