RRML - ABCB1 gene polymorphisms is not associated with drug-resistant epilepsy in Romanian children
AMLR

ISSN online: 2284-5623

ISSN-L: 1841-6624

Rejection rate (2016): 55%

Română English


SCImago Journal & Country Rank


Advanced search


Top 10 downloaded articles
- September 2019 -
 
Romanian Review of Laboratory ... 11
The Value of FLT3, NPM1 and DN... 11
Genotype comparison of Candida... 11
Simultaneous FLT3, NPM1 and DN... 9
Antiphospholipid syndrome – ... 9
Antibacterial activity of sele... 8
Vascular impact of quercetin a... 7
Seroprevalence and risk factor... 5
Mutational spectrum and genoty... 5
FLT-3 ITD Positive Acute Basop... 4

Log in

Concept, Design & Programming
Dr. Adrian Man

   
 
Nr. 23(4)/2015 DOI:10.1515/rrlm-2015-0037
XML
TXT

Research article

ABCB1 gene polymorphisms is not associated with drug-resistant epilepsy in Romanian children

Anamaria Todoran Butila, Anca Sin, Elisabeta Racoş Szabo, Cristian Micheu, Valeriu G. Moldovan, Septimiu Voidazan, Claudia Bănescu


Abstract:

Background: P-glycoprotein (P-gp), a drug efflux transporter, encoded by the gene MDR1 ABCB1 multidrug resistant, reduces the penetration through the brain by the AEDs. Overexpression of Pgp in blood-brain barrier in epileptic patients play an important rol in pharmacoresistance. The aim of this study was to evaluate a possible association between C1236T and G2677T ABCB1 gene polymorphisms and drug-resistant epilepsy in Romanian children. Material and Methods: A total of 194 children with epilepsy hospitalized in the Paediatric Neurology and Psychiatry Clinic in Tirgu Mureş and 153 healthy controls were included in this study. Of the initial group, those cases that met the criteria for idiopathic and cryptogenic epilepsies (114 cases) were stratified in 31drug-resistant and 83 drug-responsive patients. The C1236T and G2677T genetic polymorphisms were assessed by RFLP-PCR (polymerase chain-restriction fragment length polymorphism) followed by gel electrophoresis. Results: Molecular analysis of ABCB1 gene polymorphism identified 1236CT heterozygous to be highly repre­sented in drug-responsive group, with a p value of 0.001. Also, in idiopathic epilepsy subgroups (with partial and generalized type of seizures), in case of 1236TT and CT genotypes we found highly significant differences between drug-responsive patients and those resistant to antiepileptic treatment (p-0.003 and p-0.002 respectively). No associ­ation between G2677T polymorphism and total epilepsy was found. Conclusions: Our results show that MDR1 C1236T and G2677T polymorphisms are not associated with drug-resistant epilepsy in the study population, but 1236TT and 1236CT genotype variants and also 2677TT were found to be significantly associated with drug-responsive idiopathic epilepsy.

Keywords: C1236T, G2677T, ABCB1 gene, epilepsy, children

Received: 16.5.2015
Accepted: 19.9.2015
Published: 14.12.2015

 
  PDF Download full text PDF
(533 KB)
     
 
How to cite
Todoran Butila A, Sin A, Racoş Szabo E, Micheu C, Moldovan VG, Voidazan S, et al. ABCB1 gene polymorphisms is not associated with drug-resistant epilepsy in Romanian children. Rev Romana Med Lab. 2015;23(4):469-82. DOI:10.1515/rrlm-2015-0037