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. 2011 Sep;17(3):126-31.
doi: 10.4103/0971-6866.92082.

Neural tube defects between folate metabolism and genetics

Helmi Y Alfarra  1 , Sabreen R Alfarra, Mai F Sadiq
Affiliations

Neural tube defects between folate metabolism and genetics

Helmi Y Alfarra et al. Indian J Hum Genet. 2011 Sep.

Abstract

Neural tube defects (NTDs) are the second most common severely disabling human congenital defects. Worldwide, NTDs incidence is approximately one per 1000 live births and varies between 0.78 and 12 per 1000 births in general populations. NTDs causation involves multiple genes, nutritional and environmental factors. Research in the next stage should include bigger populations and bigger studies that would be suitable to detect significant links and conclusions with relatively minor risk factors; analysis of multiple candidate genes to detect potential gene-gene interactions; detailed analysis of patient samples stratified by phenotype.

Keywords: Folic acid; MTHFR; MTR; MTRR; NTDs.

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Conflict of interest statement

Conflict of Interest: Nil.

Figures

Figure 1
Figure 1
Scheme of the embryo's transverse cross sections during neurulation process. A = neural plate stage, B = neural groove stage, C = neural tube stage from (12).
Figure 2
Figure 2
Simple overview of folate and homocysteine metabolic cycles. AdoHcy, S-adenosylhomocysteine; Ado-Met, S-adenosylmethionine; BHMT, betaine-homocysteine methyltransferase; CBS, cystathionine b-synthase; FR, folate receptor; MTHFD, methylenetetrahydrofolate dehydrogenase; MTHFR, methylenetetrahydrofolate reductase; MS, methionine synthase; MSR, methionine synthase reductase; RFC, reduced folate carrier; SHMT, serine hydroxymethyltransferase; THF, tetrahydrofolate (39).
See this image and copyright information in PMC

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