Polimorfizam gena za serotoninski prijenosnik u osoba oboljelih od epilepsije

master's thesis

• Title (english): Serotonin Transporter Gene Polymorphism in Patients with Epilepsy
• Author: Jelena Prodić
• Mentor: Jasminka Štefulj (mentor)
• Mentor: Dubravka Hranilović (sumentor)
• Committee member: Jasminka Štefulj (član povjerenstva)
• Committee member: Dubravka Hranilović (član povjerenstva)
• Committee member: Nataša Bauer (član povjerenstva)
• Committee member: Damjan Franjević (član povjerenstva)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2011, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

Serotonin (5-HT) je neurotransmiter s ulogom u brojnim fiziološkim funkcijama, te u etiopatogenezi različitih neuropsihijatrijskih poremećaja. Razna istraživanja otkrila su sposobnost serotonina da utječe na nastanak i tijek epileptičkih napadaja. Serotoninski prijenosnik (5-HTT), transmembranski je protein odgovoran za uklanjanje serotonina iz sinaptičke pukotine, a smatra se glavnim regulatorom 5-HT neurotransmisije. Promotor i drugi intron gena za 5-HTT sadrže funkcionalne polimorfizme koji utječu na efikasnost genske ekspresije. Ovim radom ispitivana je njihova povezanost s epilepsijom temporalnog režnja (TLE). Istraživanjem je obuhvaćena 101 osoba oboljela od TLE-a i 155 zdravih osoba. Usporedbom frekvencija alela i genotipova promotorskog (5-HTTLPR) i intronskog (VNTR-2) polimorfizma gena za 5-HTT, nisu pronađene statistički značajne razlike između promatranih skupina. Dobiveni rezultati upućuju da istraživani polimorfizmi nemaju veliku ulogu u etiopatogenezi TLE-a u hrvatskoj populaciji, no zbog relativno malog broja ispitanika ne može se isključiti njihov mali utjecaj na etiopatogenezu ove kompleksne bolesti.

Abstract (english)

Serotonin is a neurotransmiter with a role in many physiological functions and in the etiopathogenesis of different neuropsychiatric disorders. Various studies have revealed the ability of serotonin to affect the generation and the course of epileptic seizures. Serotonin transporter (5-HTT), a transmembrane protein responsible for the removal of 5-HT from the synaptic cleft, is considered to be the main regulator of the 5-HT transmission. The promoter and the second intron of the 5-HTT gene contain functional polymorphisms that affect efficiency of the gene expression. The present work has investigated their association with the temporal lobe epilepsy (TLE). The study included 101 patients suffering from TLE and 155 healthy individuals. Comparison of allelic and genotypic frequencies of promoter (5-HTTLPR) and intron 2 (VNTR-2) polymorphisms, demonstrated no statistically significant difference between the investigated groups. These results indicate that investigated polymorphisms do not play a major role in the etiopathogenesis of TLE in Croatian population, however due to relatively small sample size, their minor effects on the etiopathogenesis of this complex disorder could not be excluded.

• Keywords: asocijacijsko istraživanje; epilepsija temporalnog režnja; polimorfizam; serotonin; serotoninski prijenosnik
• Keywords (english): association study; temporal lobe epilepsy; polymorphism; serotonin; serotonin transporter
• Language: croatian
• URN:NBN: urn:nbn:hr:217:435639
• Study programme: Title: Biology; specializations in: Molecular biology; Course: Molecular biology; Study programme type: university; Study level: graduate; Academic / professional title: magistar/magistra biologije (magistar/magistra biologije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2018-04-10 09:51:26