Folate is an essential micronutrient which
plays a central role in single carbon transfer reactions. It
donates a single-carbon units in the process of DNA
biosynthesis and thereby prevent genome instability
which is the key event in neoplastic transformations.
Therefore, with its function in single carbon metabolism,
the substantial maintenance of folate levels in the human
body plays a significant role in nucleotide synthesis,
DNA repair and thereby in maintaining genetic stability.
Furthermore, folate plays a vital role in the remethylation of methionine, thus providing essential
methyl groups for several biological reactions. And
folate is also essential for the regulation of methionine
and homocysteine metabolism inside the cell.
Consequently, optimum maintenance and regulation of
folate metabolism may aid in avoiding many biological
disturbances. It is mainly regulated by several gene
polymorphisms. This review article will be discussing
the genetic polymorphisms of major enzyme related
genes involved in folate metabolism including RFC1
(Reduced Folate Carrier protein), MTHFR-1298,
MTHFR-677 (Methylenetetrahydrofolate Reductase),
MTHFD1 (Methyl Tetrahydrofolate Dehydrogenase 1),
MTR (Methionine Synthase), DHFR (Dihydrofolate
Reductase), TS (Thymidylate Synthase).
Keywords : Folate, Folate metabolism, Gene, Genetic Polymorphism