Distribuzione di due polimorfismi genici della MTHFR in pazienti con epilessia e correlazione con i livelli serici di omocisteina

Translated title of the contribution: Distribution of two MTHFR gene polymorphisms in patients with epilepsy and correlation with homocysteine serum levels

V. Belcastro, D. Caccamo, S. Condello, M. Currò, G. Gorgone, S. Gennaro, D. Italiano, P. Striano, G. Oteri, R. Ientile, F. Pisani

Research output: Contribution to journalArticle

Abstract

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.

Original languageItalian
Pages (from-to)137-139
Number of pages3
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number125-126
Publication statusPublished - Jul 2004

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Homocysteine
Folic Acid
Epilepsy
Mutation
Serum
Genes
Enzymes
Neurodegenerative Diseases
Reference Values
Cardiovascular Diseases

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Belcastro, V., Caccamo, D., Condello, S., Currò, M., Gorgone, G., Gennaro, S., ... Pisani, F. (2004). Distribuzione di due polimorfismi genici della MTHFR in pazienti con epilessia e correlazione con i livelli serici di omocisteina. Bollettino - Lega Italiana contro l'Epilessia, (125-126), 137-139.

Distribuzione di due polimorfismi genici della MTHFR in pazienti con epilessia e correlazione con i livelli serici di omocisteina. / Belcastro, V.; Caccamo, D.; Condello, S.; Currò, M.; Gorgone, G.; Gennaro, S.; Italiano, D.; Striano, P.; Oteri, G.; Ientile, R.; Pisani, F.

In: Bollettino - Lega Italiana contro l'Epilessia, No. 125-126, 07.2004, p. 137-139.

Research output: Contribution to journalArticle

Belcastro, V, Caccamo, D, Condello, S, Currò, M, Gorgone, G, Gennaro, S, Italiano, D, Striano, P, Oteri, G, Ientile, R & Pisani, F 2004, 'Distribuzione di due polimorfismi genici della MTHFR in pazienti con epilessia e correlazione con i livelli serici di omocisteina', Bollettino - Lega Italiana contro l'Epilessia, no. 125-126, pp. 137-139.
Belcastro, V. ; Caccamo, D. ; Condello, S. ; Currò, M. ; Gorgone, G. ; Gennaro, S. ; Italiano, D. ; Striano, P. ; Oteri, G. ; Ientile, R. ; Pisani, F. / Distribuzione di due polimorfismi genici della MTHFR in pazienti con epilessia e correlazione con i livelli serici di omocisteina. In: Bollettino - Lega Italiana contro l'Epilessia. 2004 ; No. 125-126. pp. 137-139.
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