Genetika autoimunosnih bolesti

undergraduate thesis

• Title (english): Genetics of autoimmune diseases
• Author: Maja Ledinski
• Mentor: Nada Oršolić (mentor)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2015, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

Autoimunosne bolesti su vrlo kompleksne bolesti koje se javljaju kod sve većeg broja ljudi. Budući da nastaju kao posljedica genetičkih poremećaja, ali i utjecaja okolišnih faktora, javljaju se sa vrlo velikim spektrom simptoma što otežava njihovu karakterizaciju i pronalazak pravog uzroka zbog kojeg se bolest javlja. Zato se samo ugrubo dijele na organ-specifične i sustavne. U njihovom razvoju je, osim stanica s poremećenim funkcijama, vrlo važan i utjecaj komponenti komplementa i citokina i kemokina koji u velikoj mjeri utječu na simptome autoimunosnih bolesti. Hashimotov tiroiditis, mijastenija gravis i dijabetes mellitus tipa 1 su neki od primjera organ-specifičnih autoimunosnih bolesti, dok su sistemski eritematozni lupus, reumatoidni artritis i multipla skleroza predstavnici sustavnih autoimunosnih bolesti. Većina informacija o njihovoj genetičkoj podlozi je dobivena istraživanjima na razini genoma (engl. genome-wide association studies, GWAS), no takva istraživanja ne mogu odrediti sa potpunom sigurnošću koji genski lokusi su kritični za razvoj određene bolesti pa će u daljnjim istraživanjima biti ključno odrediti koji su to i koja je njihova funkcija.

Abstract (english)

Autoimmune diseases are very complex diseases that keep affecting more and more people. Since they are the result of genetic disorders and enviromental factors, they appear with a large spectrum of symptoms which makes their characterization and discovering their real cause even more difficult. That is why they are only roughly divided into organ-specific and systemic. Besides cells having disrupted functions, influence of components of complement and cytokines and chemokines is very important in their development and affect symptoms of the diseases. Hashimoto’s thyroiditis, myasthenia gravis and type 1 diabetes mellitus are some of the organ-specific diseases, while systemic lupus erythematosus, rheumatoid arthritis and multiple sclerosis are representatives od systemic autoimmune diseases. Most of the information of their genetic background comes from the genome-wide association studies, however, such research cannot precisely predict which genetic locuses are critical for development of certain diseases, therefore, in further research it will be key to determine which locuses are critical and their functions.

• Keywords: autoimunosne bolesti
• Keywords (english): autoimmune diseases
• Language: croatian
• URN:NBN: urn:nbn:hr:217:107100
• Study programme: Title: Molecular Biology; Study programme type: university; Study level: undergraduate; Academic / professional title: sveučilišni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) molekularne biologije (sveučilišni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) molekularne biologije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2017-12-14 13:53:22