Polimorfizam gena za serotoninski receptor 5-HT6 i demencija

master's thesis

• Title (english): 5-HT6 serotonin receptor gene polymorphism and dementia
• Author: Barbara Nikolić
• Mentor: Dubravka Švob Štrac (mentor)
• Mentor: Dubravka Hranilović (sumentor)
• Committee member: Dubravka Hranilović (predsjednik povjerenstva)
• Committee member: Ivana Maguire (član povjerenstva)
• Committee member: Antun Alegro (član povjerenstva)
• Committee member: Duje Lisičić (član povjerenstva)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2016-02-24, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

Demencija predstavlja sindrom globalnog i progresivnog oštećenja stečenih kognitivnih sposobnosti pri očuvanoj svijesti, s posebno zahvaćenim funkcijama pamćenja, učenja, apstraktnog mišljenja, orijentacije i poimanja vidno-prostornih odnosa. Progresivne se demencije za sada ne mogu potpuno izliječiti niti značajnije zaustaviti pa, s obzirom na ubrzano starenje stanovništva i produljenje životnog vijeka, u skorijoj budućnosti predstavljaju jedan od vodećih medicinskih, društvenih i ekonomskih globalnih problema. Sve više istraživanja upućuje na moguću ulogu serotoninskog sustava u različitim kognitivnim funkcijama poput učenja i pamćenja i to posebice receptora 5-HT6. Utvrđena je i povezanost pojedinih polimorfizama u genu za receptor 5-HT6 s Alzheimerovom bolesti, iako su rezultati istraživanja oprečni. Cilj ovoga istraživanja bio je utvrditi moguću povezanost polimorfizma C267T (rs1805054) u genu za serotoninski receptor 5-HT6 (HTR6) s razvojem progresivnih demencija. Rezultati našeg istraživanja nisu uputili na povezanost polimorfizma rs1805054 gena HTR6, s razvojem demencije u bolesnika s blagim kognitivnim poremećajem, Alzheimerovom bolesti i ostalim oblicima demencija poput vaskularne demencije, frontotemporalne demencije i demencije s Lewyjevim tjelešcima. U svrhu razjašnjavanja uloge serotoninskog receptora 5-HT6 i gena HTR6 u razvoju demencije, potrebna su daljnja opširnija istraživanja koje će uključiti različite populacije, različite tipove demencija i veći broj ispitanika.

Abstract (english)

Dementia is a syndrome of global and progressive deterioration of acquired cognitive skills with preserved consciousness, where memory, learning, abstract thinking, orientation and understanding of visual-spatial relationships are particularly affected. As the progressive dementias for now cannot be healed or significantly halted, given the aging population and increasing life expectance, in the near future dementia will become one of the leading medical, social and economic global problems. Increasing number of studies suggest the potential role of the serotonergic system, particularly 5-HT6 receptors, in various cognitive functions such as learning and memory. The associations of individual polymorphisms in the gene coding for 5-HT6 receptor with Alzheimer's disease have been found, although the results are controversial. The aim of this study was to determine the possible association of polymorphism C267T (rs1805054) in the HTR6 gene, coding for the serotonin 5-HT6 receptor, with the development of progressive dementia. The results of our study have not suggested the association of rs1805054 polymorphism in the HTR6 gene with the development of dementia in patients with mild cognitive impairment, Alzheimer's disease and other types of dementia such as vascular dementia, frontotemporal dementia and dementia with Lewy bodies. Further extensive studies including different populations, different types of dementia and higher number of participants are needed in order to elucidate the role of serotonin 5-HT6 receptor and HTR6 gene in the pathogenesis of dementia.

• Keywords: Alzheimerova bolest; blagi kognitivni poremećaj; vaskularna demencija; frontotemporalna demencija; demencija s Lewyjevim tjelešcima; rs1805054; polimorfizam gena HTR6
• Keywords (english): Alzheimer’s disease; mild cognitive impairment; vascular dementia; frontotemporal dementia; Lewy body dementia; rs1805054; HTR6 gene polymorphism
• Language: croatian
• URN:NBN: urn:nbn:hr:217:268711
• Study programme: Title: Experimental Biology; Study programme type: university; Study level: graduate; Academic / professional title: magistar/magistra eksperimentalne biologije (magistar/magistra eksperimentalne biologije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2017-05-08 11:25:37