Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/2225
Título: Mesial temporal lobe epilepsy and serotonin: the role of HTR2A receptor
Autor: Chaves, J.
Leal, B.
Carvalho, C.
Bettencourt, A.
Bras, S.
Barreira, A.
Boleixa, D.
Martins da Silva, A.
Costa, P.P.
Martins da Silva, B.
Palavras-chave: Epilepsy
Genetic Association
Complex Disease Genetics
Determinantes da Saúde e da Doença
Doenças Genéticas
Data: 17-Jun-2013
Editora: Wiley/ International League Against Epilepsy
Citação: Epilepsia 2013;54(S3):297
Resumo: Purpose: Evidences from animal models have demonstrated that depletion of brain serotonin (5-HT), a neurotransmitter with a pivotal role in neurodevelopment and brain plasticity, lowers the threshold to induced seizures. It was also demonstrated that anti-epileptic drugs increase endogenous 5-HT concentrations. Studies in brain tissue from Mesial Temporal lobe Epilepsy (MTLE) patients have showed that serotonin type 2a receptor (HTR2A) is downregulated in these patients. HTR2A expression levels may be modulated by a 102 T>C polymorphism. The aim of this study was to analyse the association between 102T>C polymorphism and the development and clinical features of MTLE-HS in a Portuguese population. Methods: A cohort of 112 MTLE-HS patients (62F, 50M, mean age = 44 11 years, age of onset = 13 9 years, 97 patients with drug refractory epilepsy) was compared with a cohort of 183 healthy individuals (HI). Genotyping was performed by Real Time PCR using High Melting Resolution methodology. Results: HTR2A 102 T>C genotype frequencies were similar between patients and controls (TT: 24.1% vs. 25.1% in HI; TC: 45.5% vs. 43.2% in HI; CC: 31.3% vs. 31.7% in HI). No association was found between this polymorphism and MTLE-HS clinical features (age of onset, FS antecedents and anti-epileptic drug response). Conclusion: The present results do not provide evidence that HTR2A polymorphism 102T>C may confer susceptibility to MTLE-HS. Nevertheless a possible role for the serotonergic system in epileptogenesis cannot be excluded. The study of other 5-HT receptors and transporters is underway.
Peer review: no
URI: http://hdl.handle.net/10400.18/2225
ISSN: 0013-9580
Versão do Editor: http://onlinelibrary.wiley.com/doi/10.1111/epi.12229/pdf
Aparece nas colecções:DGH - Posters/abstracts em congressos internacionais

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