RLIP76 GENE VARIANTS ARE NOT ASSOCIATED WITH DRUG RESPONSE IN TURKISH EPILEPSY PATIENTS

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MANGUOGLU E., AKDENİZ Ş., DUNDAR N. O., DUMAN Ö., Aktekin B., HASPOLAT Ş., ...Daha Fazla

BALKAN JOURNAL OF MEDICAL GENETICS, cilt.14, sa.1, ss.25-30, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 14 Sayı: 1
  • Basım Tarihi: 2011
  • Doi Numarası: 10.2478/v10034-011-0014-3
  • Dergi Adı: BALKAN JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.25-30
  • Anahtar Kelimeler: Epilepsy, Neuropharmacology, Pharmacogenetics, Polymorphism, RLIP76 gene, PHARMACORESISTANT EPILEPSY, ANTIEPILEPTIC DRUGS, RESISTANCE, POLYMORPHISMS, TRANSPORTER, EFFECTOR, PROTEIN, RALBP1
  • Akdeniz Üniversitesi Adresli: Evet

Özet

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+140G> 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.