Folate Metabolism and Major Genetic Polymorphisms


Authors : ARN Silva; HEH Perera; RS Maddumage

Volume/Issue : Volume 6 - 2021, Issue 6 - June

Google Scholar : http://bitly.ws/9nMw

Scribd : https://bit.ly/3rimrCV

Abstract : 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

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

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