Folate, homocysteine and neural tube defects: an overview.

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Title:	Folate, homocysteine and neural tube defects: an overview.
Author(s):	Put, N.M.J. van der ; Straaten, H.W.M. van; Trijbels, J.M.F. ; Blom, H.J.
Publication year:	2001
Source:	Experimental Biology and Medicine, vol. 226, iss. 4, (2001), pp. 243--70
ISSN:	1535-3702
DOI:	https://doi.org/10.1177/153537020122600402
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : http://hdl.handle.net/2066/188636
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Subject:	Inborn errors of metabolism Erfelijke stofwisselingsziekten
Organization:	Paediatrics
Journal title:	Experimental Biology and Medicine
Volume:	vol. 226
Issue:	iss. 4
Page start:	p. 243-
Page end:	p. 70
Abstract:	Folate administration substantially reduces the risk on neural tube detects (NTD). The interest for studying a disturbed homocysteine (Hcy) metabolism in relation to NTD was raised by the observation of elevated blood Hcy levels in mothers of a NTD child. This observation resulted in the examination of enzymes involved in the folate-dependent Hcy metabolism. Thus far, this has 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 Hcy concentrations. These levels can be normalized by additional folate intake. Thus, a dysfunctional MTHFR partly explains the observed elevated Hcy 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.