<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>Approximately 30% of epileptic patients remain untreated, in spite of trials with maximum tolerable doses of more than one drug. The RalA binding protein 1 (RALBP1/RLIP76), a multifunctional, anti-apoptotic, multidrug transporter protein, has been proposed as being responsible for the drug resistance mechanism in epilepsy. We have investigated polymorphic differences in the coding regions and exon-intron boundaries of the <italic>RLIP76</italic> gene, between 146 refractory and 155 non refractory epileptic patients in Turkey, using denaturing high performance liquid chromatography (HPLC) and sequencing analysis techniques. We have detected the following sequence variants: c.160-4G>A, c.187C>G, c.1562-38G>A, c.1670+107G>A, c.1670+93G>A, c.1670+96G>A, c.1670+100C>T, c.1670+130C>T, c.1670+131G>C, c.1670+140 G>C, and found no statistically significant correlation between allele frequencies and drug response status. We conclude that sequence variants of this gene are not involved in drug resistance in epilepsy.</p></abstract>

Approximately 30% of epileptic patients remain untreated, in spite of trials with maximum tolerable doses of more than one drug. The RalA binding protein 1 (RALBP1/RLIP76), a multifunctional, anti-apoptotic, multidrug transporter protein, has been proposed as being responsible for the drug resistance mechanism in epilepsy. We have investigated polymorphic differences in the coding regions and exon-intron boundaries of the RLIP76 gene, between 146 refractory and 155 non refractory epileptic patients in Turkey, using denaturing high performance liquid chromatography (HPLC) and sequencing analysis techniques. We have detected the following sequence variants: c.160-4G>A, c.187C>G, c.1562-38G>A, c.1670+107G>A, c.1670+93G>A, c.1670+96G>A, c.1670+100C>T, c.1670+130C>T, c.1670+131G>C, c.1670+140 G>C, and found no statistically significant correlation between allele frequencies and drug response status. We conclude that sequence variants of this gene are not involved in drug resistance in epilepsy.

<italic>RLIP76</italic> Gene Variants are not Associated with Drug Response in Turkish Epilepsy Patients

Department of Medical Biology, Faculty of Medicine, Akdeniz University, Antalya, Turkey

Department of Pediatric Nuerology, Faculty of Medicine, Akdeniz University, Antalya, Turkey

Department of Neurology, Yeditepe University Hospital, Istanbul, Turkey

Department of Biostatistics and Medical Informatics, Faculty of Medicine, Akdeniz University, Antalya, Turkey

Balkan Journal of Medical Genetics

 Gene Variants are not Associated with Drug Response in Turkish Epilepsy Patients

Approximately 30% of epileptic patients remain untreated, in spite of trials with maximum tolerable doses of more than one drug. The RalA binding protein 1...

RLIP76 Gene Variants are not Associated with Drug Response in Turkish Epilepsy Patients

Publié en ligne: 25 juil. 2011

Pages: 25 - 30

DOI: https://doi.org/10.2478/v10034-011-0014-3

Mots clés
Epilepsy, Neuropharmacology, Pharmacogenetics, Polymorphism, gene

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