Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in ischemic vascular disease.


Genetic and metabolism of C677T methylenetetrahydrofolate reductase (MTHFR) mutation and its relationship with ischemic vascular disease are revised.


Homocygotes for C677T MTHFR mutation, 10-15% of general population, develop a thermolabil variant of the MTHFR enzyme which has a reduced functional activity. Because of this lower activity, is more likely for these patients to have mild hyperhomocysteinemia, a potential vascular risk factor, through their lives. A correct intake of folates and group B vitamins can help to compensate this genetic trend caused by the mutation.


Molecular finding of C677T MTHFR mutation allow us to identify a part of population with a potential risk factor for ischemic vascular disease, with the advantage that is an easily revertible factor by modulation of the diet.