Service Communautaire d'Information sur la Recherche et le Développement - CORDIS

The impact of the MTHFD1 1958 variant allele (AG or AA) on maternal susceptibility to orofacial claft affected births

Low maternal folate or vitamin B 12 status has been implicated in numerous pregnancy complications including spontaneous abortion. MTHFD1 (5,10-methylene-tetrahydrofolate dehydrogenase 1) is another enzyme involved in the folic acid metabolic pathway with potential implications for susceptibility to orofacial clefts. Like MTHFR, this polymorphism is widely reported in the literature as a factor which reduces the bio availability of folic acid with reciprocal implications for homocysteine metabolism, and excess homocysteine may be teratogenic. The results of the EUROCRAN study raises the interesting possibility that the MTHFD1 1958AA genotype may be an important maternal risk factor for cleft lip and palate to consider during pregnancy. As a result further research in this area is required.

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Peter MOSSEY, (Professor)
Tél.: +44-1382-425761
Fax: +44-1382-206321