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BioMed Research International
Volume 2013 (2013), Article ID 526837, 7 pages
CYP3A5*3 and C3435T MDR1 Polymorphisms in Prognostication of Drug-Resistant Epilepsy in Children and Adolescents
1Department of Neuropediatrics, Medical University of Silesia, 16 Medykow Street, 40-752 Katowice, Poland
2Department of Human Anatomy, Medical University of Silesia, 18 Medykow Street, 40-752 Katowice, Poland
3Department of Biochemistry and Medical Genetics, School of Health Care, Medical University of Silesia, 18 Medykow Street, 40-752 Katowice, Poland
4Department of General and Molecular Biology and Genetics, Medical University of Silesia, 18 Medykow Street, 40-752 Katowice, Poland
5CoE Research and Teaching of Molecular Biology of Matrix and Nanotechnology, Network of CoE BioMedTech Silesia, 40-752 Katowice, Poland
Received 30 April 2013; Accepted 25 June 2013
Academic Editor: Luca Cucullo
Copyright © 2013 Ewa Emich-Widera et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
- C. Adelöw, E. Åndell, P. Åmark et al., “Newly diagnosed single unprovoked seizures and epilepsy in Stockholm, Sweden: First report from the Stockholm Incidence Registry of Epilepsy (SIRE),” Epilepsia, vol. 50, pp. 1094–1101, 2009.
- C. E. Begley, G. A. Baker, E. Beghi et al., “Cross-country measures for monitoring epilepsy care,” Epilepsia, vol. 48, no. 5, pp. 990–1001, 2007.
- K. L. Kwong, W. Y. Sung, S. N. Wong, and K. T. So, “Early predictors of medical intractability in childhood epilepsy,” Pediatric Neurology, vol. 29, no. 1, pp. 46–52, 2003.
- G. Regesta and P. Tanganelli, “Clinical aspects and biological bases of drug-resistant epilepsies,” Epilepsy Research, vol. 34, no. 2-3, pp. 109–122, 1999.
- P. Camfield and C. Camfield, “The frequency of intractable seizures after stopping AEDs in seizure-free children with epilepsy,” Neurology, vol. 64, no. 6, pp. 973–975, 2005.
- C. Alonso-Cerezo, I. Herrera-Peco, V. Fernández-Millares et al., “Family history of epilepsy resistant to treatment,” Revista de Neurologia, vol. 52, no. 9, pp. 522–526, 2011.
- W. Löscher and C. Brandt, “High seizure frequency prior to antiepileptic treatment is a predictor of pharmacoresistant epilepsy in a rat model of temporal lobe epilepsy,” Epilepsia, vol. 51, no. 1, pp. 89–97, 2010.
- B. Abou-Khalil, L. Krei, B. Lazenby, P. A. Harris, J. L. Haines, and P. Hedera, “Familial genetic predisposition, epilepsy localization and antecedent febrile seizures,” Epilepsy Research, vol. 73, no. 1, pp. 104–110, 2007.
- D. Kasperavičiüte, C. B. Catarino, E. L. Heinzen et al., “Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study,” Brain, vol. 133, no. 7, pp. 2136–2147, 2010.
- A. Wojtczak and J. Skrȩtkowicz, “Clinical significance of some genetic polymorphisms of cytochrome p-450 subfamilies cyp2d, cyp2e and cyp3a Part II,” Polski Merkuriusz Lekarski, vol. 27, no. 158, pp. 166–169, 2009 (Polish).
- A. Wojtczak and J. Skrȩtkowicz, “Clinical significance of some genetic polymorphisms of cytochrome P-450: family CYP1 and subfamilies CYP2A, CYP2B and CYP2C,” Polski Merkuriusz Lekarski, vol. 26, no. 153, pp. 248–252, 2009 (Polish).
- E. G. Schuetz, M. V. Relling, S. Kishi et al., “PharmGKB update: II. CYP3A5, cytochrome P450, family 3, subfamily A, polypeptide 5,” Pharmacological reviews, vol. 56, no. 2, pp. 153–159, 2004.
- W. Löscher and N. Delanty, “MDR1/ABCB1 polymorphisms and multidrug resistance in epilepsy: in and out of fashion,” Pharmacogenomics, vol. 10, no. 5, pp. 711–713, 2009.
- U. Klotz, “The role of pharmacogenetics in the metabolism of antiepileptic drugs: pharmacokinetic and therapeutic implications,” Clinical Pharmacokinetics, vol. 46, no. 4, pp. 271–279, 2007.
- C. Ghosh, N. Marchi, N. K. Desai et al., “Cellular localization and functional significance of CYP3A4 in the human epileptic brain,” Epilepsia, vol. 52, no. 3, pp. 562–571, 2011.
- D. Pal and A. K. Mitra, “MDR- and CYP3A4-mediated drug-drug interactions,” Journal of Neuroimmune Pharmacology, vol. 1, no. 3, pp. 323–339, 2006.
- S. Fukuen, T. Fukuda, H. Maune et al., “Novel detection assay by PCR-RFLP and frequency of the CYP3A5 SNPs, CYP3A5* 3 and *6, in a Japanese population,” Pharmacogenetics, vol. 12, no. 4, pp. 331–334, 2002.
- P. Kuehl, J. Zhang, Y. Lin et al., “Sequence diversity in CYP3A promoters and characterization of the genetic basis of polymorphic CYP3A5 expression,” Nature Genetics, vol. 27, no. 4, pp. 383–391, 2001.
- N. Marchi, K. L. Hallene, K. M. Kight et al., “Significance of MDR1 and multiple drug resistance in refractory human epileptic brain,” BMC Medicine, vol. 9, pp. 2–37, 2004.
- H. Ak, B. Ay, T. Tanriverdi et al., “Expression and cellular distribution of multidrug resistance-related proteins in patients with focal cortical dysplasia,” Seizure, vol. 16, no. 6, pp. 493–503, 2007.
- S. Dauchy, F. Dutheil, R. J. Weaver et al., “ABC transporters, cytochromes P450 and their main transcription factors: expression at the human blood-brain barrier,” Journal of Neurochemistry, vol. 107, no. 6, pp. 1518–1528, 2008.
- S. Hoffmeyer, O. Burk, O. von Richter et al., “Functional polymorphisms of the human multidrug-resistance gene: multiple sequence variations and correlation of one allele with P-glycoprotein expression and activity in vivo,” Proceedings of the National Academy of Sciences of the United States of America, vol. 97, no. 7, pp. 3473–3478, 2000.
- M. Kurzawski, A. Pawlik, W. Górnik, and M. Droździk, “Frequency of common MDR1 gene variants in a Polish population,” Pharmacological Reports, vol. 58, pp. 35–40, 2006.
- C. Höcht, A. Lazarowski, N. N. Gonzalez et al., “Differential hippocampal pharmacokinetics of phenobarbital and carbamazepine in repetitive seizures induced by 3-mercaptopropionic acid,” Neuroscience Letters, vol. 453, no. 1, pp. 54–57, 2009.
- H. Potschka, “Modulating P-glycoprotein regulation: future perspectives for pharmacoresistant epilepsies?” Epilepsia, vol. 51, no. 8, pp. 1333–1347, 2010.
- B. S. Haerian, H. Roslan, A. A. Raymond et al., “ABCB1 C3435T polymorphism and the risk of resistance to antiepileptic drugs in epilepsy: a systematic review and meta-analysis,” Seizure, vol. 19, no. 6, pp. 339–346, 2010.
- P. Kwan, L. Baum, V. Wong et al., “Association between ABCB1 C3435T polymorphism and drug-resistant epilepsy in Han Chinese,” Epilepsy and Behavior, vol. 11, no. 1, pp. 112–117, 2007.
- M. B. Sánchez, J. L. Herranz, C. Leno et al., “Genetic factors associated with drug-resistance of epilepsy: relevance of stratification by patient age and aetiology of epilepsy,” Seizure, vol. 19, no. 2, pp. 93–101, 2010.
- S. Dauchy, F. Miller, P.-O. Couraud et al., “Expression and transcriptional regulation of ABC transporters and cytochromes P450 in hCMEC/D3 human cerebral microvascular endothelial cells,” Biochemical Pharmacology, vol. 77, no. 5, pp. 897–909, 2009.
- C. Ghosh, J. Gonzalez-Martinez, M. Hossain et al., “Pattern of P450 expression at the human blood-brain barrier: roles of epileptic condition and laminar flow,” Epilepsia, vol. 51, no. 8, pp. 1408–1417, 2010.
- T. Seo, N. Nakada, N. Ueda et al., “Effect of CYP3A5*3 on carbamazepine pharmacokinetics in Japanese patients with epilepsy,” Clinical Pharmacology and Therapeutics, vol. 79, no. 5, pp. 509–510, 2006.
- P. Kwan, A. Arzimanoglou, A. T. Berg et al., “Definition of drug resistant epilepsy: consensus proposal by the ad hoc task force of the ILAE commission on therapeutic strategies,” Epilepsia, vol. 51, pp. 1969–1077, 2010.
- M. Drozdzik, K. Mysliwiec, M. Lewinska-Chelstowska, J. Banach, A. Drozdzik, and J. Grabarek, “P-glycoprotein drug transporter MDR1 gene polymorphism in renal transplant patients with and without gingival overgrowth,” Journal of Clinical Periodontology, vol. 31, no. 9, pp. 758–763, 2004.
- S.-J. Lee, D. A. Bell, S. J. Coulter, B. Ghanayem, and J. A. Goldstein, “Recombinant CYP3A4*17 is defective in metabolizing the hypertensive drug nifedipine, and the CYP3A4*17 allele may occur on the same chromosome as CYP3A5*3, representing a new putative defective CYP3A haplotype,” Journal of Pharmacology and Experimental Therapeutics, vol. 313, no. 1, pp. 302–309, 2005.
- A. Lazarowski and L. Czornyj, “Potential role of multidrug resistant proteins in refractory epilepsy and antiepileptic drugs interactions,” Drug Metabolism and Drug Interactions, vol. 26, no. 1, pp. 21–26, 2011.
- W. Huang, Y. S. Lin, D. J. McConn II et al., “Evidence of significant contribution from CYP3A5 to hepatic drug metabolism,” Drug Metabolism and Disposition, vol. 32, no. 12, pp. 1434–1445, 2004.
- P.-W. Park, Y. H. Seo, J. Y. Ahn, K.-A. Kim, and J.-Y. Park, “Effect of CYP3A5*3 genotype on serum carbamazepine concentrations at steady-state in Korean epileptic patients,” Journal of Clinical Pharmacy and Therapeutics, vol. 34, no. 5, pp. 569–574, 2009.
- T. Seo, T. Ishitsu, N. Ueda et al., “ABCB1 polymorphisms influence the response to antiepileptic drugs in Japanese epilepsy patients,” Pharmacogenomics, vol. 7, no. 4, pp. 551–561, 2006.
- N. Marchi, J. Gonzalez-Martinez, M.-T. Nguyen, T. Granata, and D. Janigro, “Transporters in drug-refractory epilepsy: clinical significance,” Clinical Pharmacology and Therapeutics, vol. 87, no. 1, pp. 13–15, 2010.
- S. M. Dombrowski, S. Y. Desai, M. Marroni et al., “Overexpression of multiple drug resistance genes in endothelial cells from patients with refractory epilepsy,” Epilepsia, vol. 42, no. 12, pp. 1501–1506, 2001.
- W. Löscher and H. Potschka, “Role of drug efflux transporters in the brain for drug disposition and treatment of brain diseases,” Progress in Neurobiology, vol. 76, no. 1, pp. 22–76, 2005.
- W. Löscher, U. Klotz, F. Zimprich, and D. Schmidt, “The clinical impact of pharmacogenetics on the treatment of epilepsy,” Epilepsia, vol. 50, no. 1, pp. 1–23, 2009.
- P. Kwan and M. J. Brodie, “Potential role of drug transporters in the pathogenesis of medically intractable epilepsy,” Epilepsia, vol. 46, no. 2, pp. 224–235, 2005.
- S.-I. Akanuma, S. Hori, S. Ohtsuki, M. Fujiyoshi, and T. Terasaki, “Expression of nuclear receptor mRNA and liver X receptor-mediated regulation of ABC transporter A1 at rat blood-brain barrier,” Neurochemistry International, vol. 52, no. 4-5, pp. 669–674, 2008.
- L. Cucullo, M. Hossain, E. Rapp, T. Manders, N. Marchi, and D. Janigro, “Development of a humanized in vitro blood-brain barrier model to screen for brain penetration of antiepileptic drugs,” Epilepsia, vol. 48, no. 3, pp. 505–516, 2007.
- S. Jóźwiak, K. Kotulska, D. Domańska-Pakieła et al., “Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex,” European Journal of Paediatric Neurology, vol. 15, no. 5, pp. 424–431, 2011.
- N. Marchi, G. Guiso, M. Rizzi et al., “A pilot study on brain-to-plasma partition of 10,11-dyhydro-10-hydroxy-5H- dibenzo(b,f)azepine-5-carboxamide and MDR1 brain expression in epilepsy patients not responding to oxcarbazepine,” Epilepsia, vol. 46, no. 10, pp. 1613–1620, 2005.
- A. Siddiqui, R. Kerb, M. E. Weale et al., “Association of multidrug resistance in epilepsy with a polymorphism in the drug-transporter gene ABCB1,” The New England Journal of Medicine, vol. 348, no. 15, pp. 1442–1448, 2003.
- M. Ufer, I. Mosyagin, H. Muhle et al., “Non-response to antiepileptic pharmacotherapy is associated with the ABCC2-24C>T polymorphism in young and adult patients with epilepsy,” Pharmacogenetics and Genomics, vol. 19, no. 5, pp. 353–362, 2009.
- F. G. Bournissen, M. E. Moretti, D. N. Juurlink, G. Koren, M. Walker, and Y. Finkelstein, “Polymorphism of the MDR1/ABCB1 C3435T drug-transporter and resistance to anticonvulsant drugs: a meta-analysis,” Epilepsia, vol. 50, no. 4, pp. 898–903, 2009.
- L. Chen, C.-Q. Liu, Y. Hu, Z.-T. Xiao, Y. Chen, and J.-X. Liao, “Association of a polymorphism in MDR1 C3435T with response to antiepileptic drug treatment in ethic Han Chinese children with epilepsy,” Chinese Journal of Contemporary Pediatrics, vol. 9, no. 1, pp. 11–14, 2007.
- C. Von Stülpnagel, H. Plischke, P. Zill et al., “Letter: lack of association between MDR1 polymorphisms and pharmacoresistance to anticonvulsive drugs in patients with childhood-onset epilepsy,” Epilepsia, vol. 50, no. 7, pp. 1835–1837, 2009.
- S. A. Vahab, S. Sen, N. Ravindran et al., “Analysis of genotype and haplotype effects of ABCB1 (MDR1) polymorphisms in the risk of medically refractory epilepsy in an indian population,” Drug Metabolism and Pharmacokinetics, vol. 24, no. 3, pp. 255–260, 2009.
- A. Alpman, F. Ozkinay, H. Tekgul et al., “Multidrug resistance 1 (MDR1) gene polymorphisms in childhood drug-resistant epilepsy,” Journal of Child Neurology, vol. 25, no. 12, pp. 1485–1490, 2010.
- A.-H. I. Mohammed Ebid, M. M. M. Ahmed, and S. A. Mohammed, “Therapeutic drug monitoring and clinical outcomes in epileptic Egyptian patients: a gene polymorphism perspective study,” Therapeutic Drug Monitoring, vol. 29, no. 3, pp. 305–312, 2007.
- S. Saygi, F. Alehan, F. B. Atac, I. Erol, H. Verdi, and R. Erdem, “Multidrug resistance 1 (MDR1) 3435C/T genotyping in childhood drug-resistant epilepsy,” Brain and Development, 2013.
- S. Awasthi, K. L. Hallene, V. Fazio et al., “RLIP76, a non-ABC transporter, and drug resistance in epilepsy,” BMC Neuroscience, vol. 6, article 61, 2005.