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Shabeesh , Balan and Sarada , lekshmi and Koramannil, Radha and Sanish , Sathyan and Moinak, Banerjee (2013) Major vault protein (MVP) gene polymorphisms and drug resistance in mesial temporal lobe epilepsy with hippocampal sclerosis. Gene, 526 (2). pp. 449-453. ISSN 1879-0038

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The human major vault protein (MVP) has been implicated in the development of drug resistance in cancer cells. Over expression of MVP has also been reported in brain tissue samples from antiepileptic drug (AED)-resistant human focal epilepsies. To investigate the relationship between single nucleotide polymorphisms (SNPs) involving the MVP gene and AED-resistance, we compared the distribution of three SNPs in the MVP gene, rs4788187, rs3815824 and rs3815823, among 220 patients with mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) (prototype of AED-resistant epilepsy syndrome), 201 patients with juvenile myoclonic epilepsy (JME) (prototype of AED-responsive epilepsy syndrome) and 213 ethnically matched non-epilepsy controls. All the patients and controls were residents of the South Indian state of Kerala for more than three generations. We did not find any significant difference in allele and genotypic frequencies of the studied SNPs between AED-resistant and AED-responsive cohorts, and between AED-resistant and AED-responsive cohorts independently and pooled together when compared with the controls. We conclude that rs4788187, rs3815824, rs3815823 variants of the MVP gene are associated neither with predisposition for epilepsy nor with AED-resistance in the population that we have studied. Our results suggest the need for further research into the link between MVP and AED-resistance.

Item Type: Article
Uncontrolled Keywords: Drug resistance; Genetic variants; Juvenile myoclonic epilepsy; Major vault protein; Temporal lobe epilepsy
Subjects: Human Molecular Genetics
Depositing User: Rgcb Library
Date Deposited: 24 Jan 2017 04:25
Last Modified: 24 Jan 2017 04:25
URI: http://rgcb.sciencecentral.in/id/eprint/184

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