TY - JOUR
T1 - Major vault protein (MVP) gene polymorphisms and drug resistance in mesial temporal lobe epilepsy with hippocampal sclerosis
AU - Balan, Shabeesh
AU - lekshmi, Sarada
AU - Radha, Koramannil
AU - Sathyan, Sanish
AU - Vijai, Joseph
AU - Banerjee, Moinak
AU - Radhakrishnan, Kurupath
N1 - Funding Information:
This work was supported by a research grant (No. 2007/37/63/BRNS ) by Board of Research in Nuclear Sciences, Department of Atomic Energy, Government of India to Dr. Kurupath Radhakrishnan and Dr. Moinak Banerjee, and a research fellowship (No. 082/FSHP/08/CSTE ) by Kerala State Council for Science Technology and Environment, Government of Kerala to Mr. Shabeesh Balan.
PY - 2013/9/10
Y1 - 2013/9/10
N2 - 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.
AB - 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.
KW - Drug resistance
KW - Genetic variants
KW - Juvenile myoclonic epilepsy
KW - Major vault protein
KW - Temporal lobe epilepsy
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U2 - 10.1016/j.gene.2013.05.067
DO - 10.1016/j.gene.2013.05.067
M3 - Article
C2 - 23751308
AN - SCOPUS:84880712720
SN - 0378-1119
VL - 526
SP - 449
EP - 453
JO - Gene
JF - Gene
IS - 2
ER -
