Prevalencia de la mutación C677T del gen de la metilentetrahidrofolato reductasa en pacientes con patología isquémica cerebrovascular aguda en la Comunidad Autónoma Aragonesa

Background: Mutation C677T of the methylenetetrahydrofolate reductase (MTHFR) is the main cause of mild hyperhomocysteinemia. Hyperhomocysteinemia is a recognized risk factor for aterothrombosis. MTHFR C677T patients have higher levels of homocysteine in absence of dietary folates. Methods: Retrospective study over data from patients studied for MTHFR C677T diagnosed ofischemic stroke (IS) younger 50 or older 50 without classic vascular risk factors or with familiar or personal history suggesting thrombophilia in a period of 3 years. MTHFR C677T was screened in 90 healthy blood donors as a control group. Computer database was used for descriptive statistics. Results: Blood simples from 99 patients and from 90 donors (control). Mean age: 44.3 with Standard desviation (SD) 13.9 years in IS group and 39.1 with SD 8.3 years in control group. We found 19 (19.19%) homozygotes for MTHFR C677T in IS group and 14 (15.55%) in control group. Conclusions: Homozygosis for MTHFR C667T is more frequent in the IS group than in the control one, although there is no significant differences. Anyway, we suggest that, because of the high prevalence of the mutation MTHFR C677T found, screening should be made in the thombophilia studies, so that we could find patients with a risk factor that could be lowered by folates in the diet.