THE ROLE OF MUTATION IN THE MTHFR GENE OF POLYMORPHISM 677 C/T IN PATIENTS WITH CARDIOVASCULAR INSUFFICIENCY

Abstract

Abstract: The MTHFR gene is located on the 1st human chromosome, p 36.3, it
is responsible for the synthesis of the enzyme Methylenetetrahydrofolate Reductase
(MTHFR) to date, more than 20 + polymorphisms of this gene are known to exist. The
main function of this enzyme is to participate in the conversion of homocysteine to
methionine in the presence of cofactors – pyridoxine (vitamin B6) and cyanocobalamin
(vitamin B12) – and a substrate – folic acid. In this literature review, we are interested
in polymorphism 677 C/T, where Cytosine being replaced by Thymine leads to the
replacement of valine in amino acid 222, as a result, a thermolabile enzyme with
reduced activity is encoded. In Figure 1, you can see the work of the MTHFR enzyme.