Journal of Applied Genetics 43(4), 2002, pp. 511-524

Genetic basis of neural tube defects. II. Genes correlated with folate and methionine metabolism

Monika GOS, Agnieszka SZPECHT-POTOCKA

Abstract: Effective supplementation with folate, which prevents neural tube defect (NTD) occurrence, and high homocysteine levels in the blood of NTD children’s mothers suggest that genes involved in folate and homocysteine metabolism can be involved in NTD aetiology. Genes encoding methylenetetrahydrofolate reductase (MTHFR) or methylenetetrahydrofolate dehydrogenase (MTHFD) belong to the first group. Genes encoding methionine synthase (MTR), its regulator – methionine synthase reductase (MTRR) and also cystathionine synthase (CBS) can be included in the second group. We present a current list of the folate and homocysteine metabolism genes that are known to be involved in NTD and pay special attention to primary and secondary NTD prevention.

Key words: folate, methionine, NTD.

Correspondence: M. GOS, The Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Department of Cell Biology, ul. Roentgena 5, 02-781 Warszawa, Poland, e-mail: monikagos@coi.waw.pl