GENOTYPE IN THE 24-KDA SUBUNIT GENE (NDFUV2) OF MITOCHONDRIAL COMPLEX I AND SUSCEPTIBILITY TO NON-LESIONAL TEMPORAL LOBE EPILEPSY
Abstract number :
3.093
Submission category :
Year :
2002
Submission ID :
1544
Source :
www.aesnet.org
Presentation date :
12/7/2002 12:00:00 AM
Published date :
Dec 1, 2002, 06:00 AM
Authors :
Angelo Labate, Antonio Gambardella, Rosanna Chifari, Donata Civitelli, Grazia Annesi, Emilio Lepiane, Paolo Serra, Francesco Sasanelli, Umberto Aguglia, Aldo Quattrone. Institute of Neurological Science, National Research Council, Piano Lago Mangone, Cose
RATIONALE: Deficiency of complex I of the mitochondrial respiratory chain has been implicated in the pathogenesis of temporal lobe epilepsy (TLE). Here, we evaluated whether the novel polymorphism (Ala29Val) in the mitochondrial 24-kDa subunit gene (NDUFV2) is a risk factor for TLE.
METHODS: The study group consisted of 133 patients (74 women and 59 men) who had a diagnosis of non-lesional TLE, based on a comprehensive clinical, neuropsychological, electroencephalographic, and routine magnetic resonance (MR) evaluations. Based on the MR study, TLE was classified as non-lesional if no epileptogenic foreign tissue lesion was detected. TLE patients with neuroimaging evidence of mesial temporal sclerosis were also included. At the time of the study, the age of the patients ranged from 14 to 87 years (mean: 50 years, standard deviation [SD] = + 18). The molecular study was performed using standard methods. It was also performed in 126 age- and gender-matched normal individuals.
RESULTS: There were no differences between patients and controls in either allelic or genotypic frequencies of the NDUFV2. Moreover, no effect of NDUFV2 polymorphisms was found on the age at onset and severity of epilepsy.
CONCLUSIONS: The results of ours study indicate that, despite a biologic plausibility, the NDUFV2 polymorphisms are not a significant genetic risk factor for the occurrence of non-lesional TLE. Moreover, NDUFV2 genotypes do not seem to influence the age at onset and prognosis of this epileptic disorder.