Polimorfizam gena za serotoninski receptor 1A (5HT-1A) u osoba oboljelih od epilepsije temporalnog režnja

master's thesis

• Title (english): Serotonin receptor 1A (5HT-1A) gene polymorphism in patients with temporal lobe epilepsy
• Author: Marija Ćalušić
• Mentor: Lipa Čičin-Šain (mentor)
• Committee member: Dubravka Hranilović (predsjednik povjerenstva)
• Committee member: Lipa Čičin-Šain (član povjerenstva)
• Committee member: Mirta Tkalec (član povjerenstva)
• Committee member: Nataša Bauer (član povjerenstva)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2011-02-17, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

Epilepsija je kompleksna bolest živčanog sustava koja se događa zbog prekomjernog i nepravilnog izbijanja električnih impulsa u mozgu i ima širok spektar kliničkih simptoma. Do razvoja epilepsije može doći različitim mehanizmima. Najčešći su uzroci poremećaji i malformacije u razvoju, promjene u mozgu uslijed raznih trauma te genetička podloga. Jedan od najčešćih tipova epilepsije je epilepsija temporalnog režnja u kojoj dolazi do parcijalnih napadaja koji kreću iz jednog ili oba temporalna režnja. Brojna istraživanja ukazuju na to da je u etiopatogenezu epilepsije uključen i serotonin (5-hidroksitriptamin, 5HT), biogeni monoamin koji primarno djeluje kao neurotransmiter. Serotonin svoje djelovanje ostvaruje preko 18 različitih receptora, raspoređenih u 7 obitelji (5HT-1 – 5HT-7). Najveću obitelj predstavljaju 5HT-1 receptori unutar kojih je i receptor 5HT-1A. Studije na eksperimentalnim životinjama ukazuju na moguću ulogu receptora 5HT-1A u razvoju epileptičnih napadaja. U genu za receptor 5HT-1A poznato je nekoliko polimorfizama, većinom polimorfizama jednog nukleotida, koji doprinose heterogenosti receptora. Jedan od najčešće istraživanih polimorfizama jednog nukleotida (SNP) ovog gena je polimorfizam u promotorskoj regiji, C(-1019)G, za koji je pokazano da utječe na ekspresiju gena i neurotransmisiju posredovanu receptorom 5HT-1A. Ovo je istraživanje bilo usmjereno na polimorfizam C(-1019)G u osoba oboljelih od epilepsije u usporedbi sa zdravim ispitanicima. Nisu pronađene statistički značajne razlike u distribuciji genotipova odnosno alela navedenog polimorfizma između te dvije skupine ispitanika.

Abstract (english)

Epilepsy is a complex disease of the nervous system which occurs due to irregular bursting of electric impulses in the brain and has a broad spectrum of clinical symptoms. Epilepsy is developed through various mechanisms. Frequent causes are disorders and malformations during development, changes in the brain due to various traumas and genetic background. One of the most common types of epilepsy is the temporal lobe epilepsy which is characterised by partial seizures which arrise from one or both temporal lobes. Numerous studies show that serotonin (5-hydroksitryptamine, 5HT), a biogenic monoamine which primarily functions as a neurotransmitter, is involved in epilepsy. It is also involved in regulation of many physiological functions and various forms of behaviours, as well as in etiopathogenesis of diverse psychiatric disorders. Serotonin exerts its action through 18 different receptors, divided into 7 families (5HT-1 – 5HT-7). The largest family are the 5HT-1 receptors which include the 5HT-1A receptor. Research on experimental animals show connection of 5HT-1A receptor in development of epileptic seizures. 5HT-1A receptor gene has several known polymorphisms, mostly single nucleotide polymorphisms (SNPs), which contribute to the receptor heterogeneity. One of the most investigated SNP of this gene is the promotor region polymorphism, C(-1019)G, which was shown to affect gene expression and neurotransmission through 5HT-1A receptor. This research was directed towards the C(-1019)G polymorphism in persons suffering from temporal lobe epilepsy compared to healthy people. No statistically significant differences in distributions of genotypes or allelles were found between these two groups.

• Keywords: epilepsija; serotonin; serotoninski receptor 5HT-1A; C(-1019)G polimorfizam jednog nukleotida
• Keywords (english): serotonin; epilepsy; serotonin receptor 1A; single nucleotide polymorphism C(-1019)G
• Language: croatian
• URN:NBN: urn:nbn:hr:217:405857
• Study programme: Title: Molecular Biology; Study programme type: university; Study level: graduate; Academic / professional title: magistar/magistra molekularne biologije (magistar/magistra molekularne biologije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Access restricted to students and staff of home institution
• Created on: 2017-05-03 07:45:19