The MTHFD1 (Methylenetetrahydrofolate dehydrogenase 1) gene expresses a trifunctional enzyme that interconverts tetrahydrofolate (THF) derivatives for nucleotide synthesis in the cytoplasm. THF is important in the de novo synthesis of purines and thymidylate and in the regeneration of methionine from homocysteine.
The A-allele in this gene has been found to reduce the metabolic activity of MTHFD1 within murine cells by up to 34%. AA and AG women should consider supplementing with choline before and during pregnancy, and after menopause.
The co-factor for this pathway is Mg-ATP. This means ATP (adenosine triphosphate), the main source of energy in cells, must be bound to a magnesium ion in order to be biologically active.