MTHFR Gene Mutation (C677T), PCR, Blood
3Day(s)Methylene tetrahydrofolate reductase (MTHFR) is one of the enzymes involved in the metabolism of the sulfur-containing amino acid, homocysteine. A specific point mutation (C677T) in the MTHFR gene gives rise to a heat-sensitive enzyme with reduced activity. Patients with this deficiency present with homocysteinuria and high blood levels of this amino acid which, being atherogenic and thrombogenic, constitute a cardiovascular risk. Clinical investigations are still necessary to define the role of this MTHFR variant in thrombotic risk.
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