The distribution of 677CT and 1298AC, two gene polymorphisms of MTHFR, an enzyme involved in the homocysteine (Hcy) metabolism, was investigated in 62 patients (pts) with E and in 62 normal subjects, matched for age and sex. The mutations were correlated with serum homocysteine (Hcy) and folate levels. Our data confirm that both mutations are frequent in pts with E and in normal subjects. Additionally, 19 out of 62 pts with E (i.e. - 30% vs - 18% of the controls) exhibited the 677CT/1298AC mutation, a finding not reported in previous studies. 9 of these pts showed serum Hey levels above (i.e. > 12 μmol/L) and serum folate levels below (i.e. < 4 ng/ml) the normal values. Pts exhibiting this mutation and treated with enzyme-inducing (folate lowering) AEDs should be treated with a folate supplementation to avoid elevated Hcy levels and, thus, the risk for cardiovascular and neurodegenerative diseases.
|Translated title of the contribution||Distribution of two MTHFR gene polymorphisms in patients with epilepsy and correlation with homocysteine serum levels|
|Number of pages||3|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|State||Published - Jul 2004|
- 677CT/1298AC mutation
ASJC Scopus subject areas
- Clinical Neurology