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Titolo:
Folate, homocysteine and neural tube defects: An overview
Autore:
van der Put, NMJ; van Straaten, HWM; Trijbels, FJM; Blom, HJ;
Indirizzi:
Univ Nijmegen, Med Ctr, Dept Pediat, NL-6500 HB Nijmegen, Netherlands UnivNijmegen Nijmegen Netherlands NL-6500 HB 0 HB Nijmegen, Netherlands Maastricht Univ, Dept Anat & Embryol, NL-6200 MD Maastricht, Netherlands Maastricht Univ Maastricht Netherlands NL-6200 MD aastricht, Netherlands
Titolo Testata:
EXPERIMENTAL BIOLOGY AND MEDICINE
fascicolo: 4, volume: 226, anno: 2001,
pagine: 243 - 270
SICI:
1535-3702(200104)226:4<243:FHANTD>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
ENG
Soggetto:
CYSTATHIONINE BETA-SYNTHASE; ONE-CARBON METABOLISM; GAMMA-GLUTAMATE SYNTHETASE; METHYLENETETRAHYDROFOLATE REDUCTASE MTHFR; HUMAN METHIONINE SYNTHASE; PERICONCEPTIONAL VITAMIN SUPPLEMENTATION; FAMILIAL SPINA-BIFIDA; RISK FACTOR; FOLIC-ACID; BINDING-PROTEIN;
Keywords:
homocysteine; folate; neural tube defects; MTHFR; metabolism;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
266
Recensione:
Indirizzi per estratti:
Indirizzo: van der Put, NMJ Univ Nijmegen Hosp, Dept Pediat, POB 9101, NL-6500 HB Nijmegen, Netherlands Univ Nijmegen Hosp POB 9101 Nijmegen Netherlands NL-6500 HB
Citazione:
N.M.J. van der Put et al., "Folate, homocysteine and neural tube defects: An overview", EXP BIOL ME, 226(4), 2001, pp. 243-270

Abstract

Folate administration substantially reduces the risk on neural tube defects (NTD), The interest for studying a disturbed homocysteine (Hcy) metabolism in relation to NTD was raised by the observation of elevated blood Hey levels in mothers of a NTD child. This observation resulted in the examination of enzymes involved in the folate-dependent Hey metabolism Thus far, thishas led to the identification of the first and likely a second genetic risk factor for NTD. The C677T and A1298C mutations in the methylenetetrahydrofolate reductase (MTHFR) gene are associated with an increased risk of NTD and cause elevated Hey concentrations. These levels can be normalized by additional folate intake. Thus, a dysfunctional MTHFR partly explains the observed elevated Hey levels in women with NTD pregnancies and also! in part, the protective effect of folate on NTD, Although the MTHFR polymorphisms are only moderate risk factors, population-wide they may account for an important part of the observed NTD prevalence.

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Documento generato il 04/04/20 alle ore 09:09:16