Abstract
Methylene tetrahydrofolate reductase (MTHFR) enzyme is a crucial enzyme involved in the pathway of tetrahydrofolate inter-conversion and one-carbon metabolism. Though there are 24 reported polymorphisms associated to MTHFR gene, the two most investigated are C677T (Ala222 Val) and A1298C (Glu429 Ala) single nucleotide polymorphisms (SNPs). The metabolic impact in the form of hyperhomocysteinemia, redistribution of different forms of folates, altered methylation process and accumulation of unmetabolised folic acid have been reported in individuals with reduced or deficient MTHFR activity. These biochemical alterations have been associated with coronary artery diseases, various thromboembolic phenomenon, infertility and reproductive failures, cancers and inflammatory diseases. Folic acid supplementation may further worsen the case in these individuals by increasing the unmetabolised forms. Supplementation of 5-MTHF could be a better alternative for therapeutic and preventive purposes. Keywords: MTHFR, Structure, C677T, A1298C, Biochemical impact.
Highlights
IntroductionEnzyme is a crucial enzyme involved in the pathway of tetrahydrofolate inter-conversion and one-carbon metabolism
Methylene tetrahydrofolate reductase (MTHFR)enzyme is a crucial enzyme involved in the pathway of tetrahydrofolate inter-conversion and one-carbon metabolism
Enzyme is a crucial enzyme involved in the pathway of tetrahydrofolate inter-conversion and one-carbon metabolism
Summary
Enzyme is a crucial enzyme involved in the pathway of tetrahydrofolate inter-conversion and one-carbon metabolism. The prime role of the enzyme is catalyzing the conversion of 5, 10-methylenetetrahydrofolate to 5methyltetrahydrofolate, the major circulatory form of folate that acts as a co-substrate for homocysteine remethylation to methionine by methionine synthase This homodimer flavoprotein is about 75 kDa consisting of 656 amino acids. In persons with 677TT, the degree of enzyme thermolability is more than persons with 677CT and 677CC.[8] Owing to less active MTHFR available to produce 5-methyletetrahydrofolate, the persons with 677TT are predisposed to mild hyper-homocysteinaemia This can be as a result of low dietary intake of folic acid. Severe MTHFR deficiency is rare but can be caused by mutations resulting in 0-20% residual enzyme activity.[6] The affected persons exhibit developmental delay, motor and gait dysfunction, seizures and neurological impairment and have extremely high levels of plasma and urine homocysteine and low plasma methionine levels
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