[Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in ischemic vascular disease].
OBJECTIVE
Genetic and metabolism of C677T methylenetetrahydrofolate reductase (MTHFR) mutation and its relationship with ischemic vascular disease are revised.


METHODS
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.


CONCLUSIONS
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.
Sánchez-Marín
B
B
Servicio de Neurología, Hospital Universitario Miguel Servet, Zaragoza, Spain.
Grasa
J M
JM
D002545:Brain Ischemia / Q000235:genetics*; D006710:Homocysteine / Q000235:genetics; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D011110:Polymorphism, Genetic; D012307:Risk Factors
D006710:Homocysteine; D042965:Methylenetetrahydrofolate Reductase (NADPH2)