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Prodynorphin gene promoter polymorphism and temporal lobe epilepsy (Articolo in rivista)

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Prodynorphin gene promoter polymorphism and temporal lobe epilepsy (Articolo in rivista) (literal)

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Gambardella A,1; Manna I,2; Labate A,2; Chifari R,3; Serra P,2; La Russa A,2; LePiane E,4; Cittadella R,2; Andreoli V,2; Sasanelli F,4; Zappia M,1-2; Aguglia U,4; Quattrone A.1-2 (2003)
Prodynorphin gene promoter polymorphism and temporal lobe epilepsy
in Epilepsia (Cph.)
(literal)

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Gambardella A,1; Manna I,2; Labate A,2; Chifari R,3; Serra P,2; La Russa A,2; LePiane E,4; Cittadella R,2; Andreoli V,2; Sasanelli F,4; Zappia M,1-2; Aguglia U,4; Quattrone A.1-2 (literal)

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We confirm that a common functional allele of PDYN gene, which results in significant reduction in gene expression, is significantly associated in a recessive manner with susceptibility to TLE. This association is particularly significant in females. The mechanism underlying this sex-selective association remains to be defined and may include a sexual dimorphism in PDYN activity. (literal)

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1,Institute of Neurology, School of Medicine, Catanzaro; 2,Institute of Neurological Sciences, National Research Council, Cosenza; 3,Clinic of Neurology, Hospital of Melegnano, Milan; 4, Regional Epilepsy Centre, Hospital of Reggio Calabria, Italy (literal)

Titolo

Abstract

Objective. A recent study illustrated that a functional polymorphism in the prodynorphin (PDYN) gene promoter encoding the dynorphin opioid peptide is a significant risk factor for temporal lobe epilepsy (TLE). Here we wished to better address the role of the PDYN gene in the genetic predisposition to TLE. Methods. We tested the distribution of the PDYN genotypes (H/H, H/L,L/L) and alleles (H,L) in 143 patients (79 females and 64 males; mean age 0 49,2 ± 18.1 years) with non-lesional TLE and 259 age and sex-matched normal individuals. In all patients, the diagnosis of non-lesional TLE was based on comprehensive clinical, neuropsychological, electroencephalographic, and routine magnetic resonance evaluations. Fifty-two/143 (36.4%) patients had a family history of seizures or febrile convulsions in one or more first -to third-degree relatives. The mean age at seizure onset was 31.2 years with a range of 0.5 to 83 years.Results We found that PDYN promotor low-expression L-alleles confer, in a recessive manner; a slight increased risk for TLE in patients with a family history for seizures. Most important, association between PDYN polymorphism and TLE was highly significant in females but not formally significant in males. (literal)

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