Panacea Journal of Medical Sciences
Official Publication of NKP Salve Institute of Medical Sciences and Research Centre
Official Publication of NKP Salve Institute of Medical Sciences and Research Centre
Print ISSN:-2249-8176
Online ISSN:-2348-7682
CODEN : PJMSD7
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Volume: 14 , Issue: 3
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Review Article
Author Details :
Volume : 8, Issue : 3, Year : 2018
Article Page : 96-99
https://10.18231/2348-7682.2018.0022
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.
How to cite : Bhaumik S, Patel S, Biochemical and clinical impact of reduced methylene tetrahydrofolate reductase enzyme activity. Panacea J Med Sci 2018;8(3):96-99
Copyright © 2018 by author(s) and Panacea J Med Sci. This is an Open Access article distributed under the terms of the Creative Commons Attribution 4.0 International License (creativecommons.org)
