Methylenetetrahydrofolate Reductase Gene Polymorphisms and Cardiovascular Diseases

Methylenetetrahydrofolate reductase (MTHFR) is a cytosolic enzyme, which contains a non-covalently bound Flavin Adenine Dinucleotide (FAD) cofactor and uses NADPH as the reducing agent. This is an essential enzyme for folate and homocysteine (hcy) metabolisms and exhibits a risk factor for a number of heart diseases. MTHFR is responsible for converting the circulating form of folate 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate in multistep processes that converts homocysteine- an amino acid to another amino acid, methionine and S-adenosyl methionine – the common methyl donor for the maintenance of several biological processes. The body uses methionine to make proteins and other important compounds for growth and metabolism. On the other hand, appropriate methylation facilitates the clearance of harmful substances, metabolites and waste products more efficiently.

Polymorphism
Polymorphism

Over the decade researchers have enhanced our understanding of pathophysiological relation with common and rare MTHFR mutations, enzyme deficiency, elevated hcy and low folate levels in circulation. Of note, it has been reported that compromised MTHFR enzyme activity leads to elevated levels of hcy.

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