Naslov
Utjecaj C3435T polimorfizma MDR1 gena na učinkovitost medikamentnog liječenja epilepsija
(The effect of MDR1 gene C3435T polymorphism on pharmacotherapeutic efficacy in epilepsy)

Autori
Hajnšek, Sanja ; Bašić, Silvio ; Poljaković, Zdravka ; Sporiš, Davor ; Božina, Nada

Izvornik
Neurologia Croatica (0353-8842) 53 (2004), 3-4; 69-78

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
MDR1; PGP; pharmacoresistant epilepsy

Sažetak
Epilepsy is one of the most common chronic neurologic disorders. Despite various antiepileptic drugs with different mechanisms of action, 20%-30% of patients are resistant to drug therapy. Human MDR1 gene encodes a large transmembrane protein (multidrug resistant transporter) P glycoprotein (PGP). PGP acts as a drug-transport pump transporting a variety of toxic exogenous substrates or metabolites from the cell. PGP is also expressed in endothelial cells of the blood-brain barrier, reducing the influx of antiepileptic drugs into the cerebrospinal fluid. C3435T polymorphism of MDR1 gene influences the effectiveness and expression of PGP on cell membrane. The study included 60 patients with epilepsy, i.e. 30 patients resistant to current drug therapy and 30 patients with good clinical response to antiepileptic therapy as a control group. Genotype distribution showed statistically significant between-group difference, with a higher frequency of CC homozygotes in the pharmacoresistant group and of TT homozygotes in the control group (p = 0.038). Study results indicated an association of C3435T polymorphism on MDR1 gene with antiepileptic drug efficacy in patients with epilepsy, irrespective of the clinical phenotype of epilepsy.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA