Open AccessOpen or Closed? A World of Difference: A History of Homocysteine Research
Author(s) -
Eskes T.K.A.B.
Publication year - 1998
Publication title -
nutrition reviews
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.958
H-Index - 150
eISSN - 1753-4887
pISSN - 0029-6643
DOI - 10.1111/j.1753-4887.1998.tb01755.x
Subject(s) - methylenetetrahydrofolate reductase , homocysteine , offspring , neural tube , hyperhomocysteinemia , pregnancy , homocystinuria , folic acid , medicine , vascular disease , endocrinology , physiology , genetics , obstetrics , methionine , biology , gene , allele , amino acid , embryo
This article presents the research of the Nijmegen homocysteine team on birth defects and vascular disease. Hyperhomocysteinemia was found in women who gave birth to offspring with neural tube defects (NTDs) and other birth defects and in women with vascular disease. Elevated homocysteine levels in the blood plasma can be explained by lack of B vitamins (folic acid), mutation of the 5, 10‐methylenetetrahydrofolate reductase (MTHFR) genes, or both. Genetic mutations were found on the first 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 methionine‐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 retardation. 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.