Folate, in the form of methyl tetrahydrofolate
, donates a methyl group to homocysteine to form methionine.
It requires folic acid and MTHFR (Methyl tetrahydrofolate
reductase) enzyme for its conversion.
The results of the screening tests performed for other genetic defects showed methylene tetrahydrofolate
reductase gene mutation (MTHF-R 677 CC): heterozygote positive.
The C677 T polymorphism of methylene tetrahydrofolate
reductase (MTHFR) was detected using Hinf 1 cleavage of 175 bp PCR product (11) while endothelial protein C receptor (EPCR) 23 bp insertion was detected by PCR amplification without any further restriction digestion (12).
The best studied association is between polymorphisms in the gene methylene tetrahydrofolate
reductase (MTHFR), the enzyme that catalyzes the formation of 5-methyl tetrahydrofolate
, a critical methyl donor for a variety of metabolic reactions.
Venous thromboembolic disease and the prothrombin, methylene tetrahydrofolate
reductase and factor V genes.
Recently, a higher prevalence of Methylene Tetrahydrofolate
Reductase Gene (MTHFR) polymorphisms in mothers of trisomy 18 foetuses is reported.
It has been described that the choice and the amount of foods and supplements intake have influence on cellular concentrations of micronutrients that are required either as substrates (e.g., 5, 10-methylene tetrahydrofolate
) or cofactors (e.g., Zn and Mg) in DNA synthesis and repair .
Folic acid is reduced to tetrahydrofolate
(THF) and subsequently converted to 5-methyl THF.
reductase (MTHFR) plays a key role in folate metabolism by channelling one-carbon units between nucleotide synthesis and methylation reactions.
However, a deficiency in vitamin B12 alone leads to a reduction in the concentration of tetrahydrofolate
This is obvious from the various studies of methylene tetrahydrofolate
reductase (MTHFR) gene polymorphism in coronary artery disease and other thrombotic disorders.