- B Sánchez-Marín: Servicio de Neurología, Hospital Universitario Miguel Servet, Zaragoza, Spain.
AIM: Genetic and metabolism of C677T methylenetetrahydrofolate reductase (MTHFR) mutation and its relationship with ischemic vascular disease are revised.
DEVELOPMENT: 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.
CONCLUSION: 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.