Sustav alarmina i ukupni genski izražaj u juvenilnom sustavnom eritemskom lupusu

doctoral thesis

• Title (english): Alarmin network and total gene expression in juvenile systemic lupus erythematosus
• Author: Anita Lukić
• Mentor: Marija Jelušić (mentor); MBZ: 251161
• Committee member: Maruška Marušić (član povjerenstva)
• Committee member: Marija Jelušić (član povjerenstva); MBZ: 251161
• Committee member: Ana Galov (član povjerenstva)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2013, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology
• Universal decimal classification (UDC): 575 - General genetics. General cytogenetics

Abstract

U ovoj studiji istraživana koncentracija i genski izražaj za alarmine S100A12, HMGB1 te njihovog receptora RAGE kod zagrebačke djece s juvenilnim sustavnim eritemskim lupusom (JSLE) te ukupni genski izražaj djece s JSLE u studiji GSE11909 iz baze GEO. Koncentracije alarmina S100A12, HMGB1 i RAGE kod djece s JSLE su bile slične koncentracijama kod zdrave djece, dok su bolesna djeca imala niži genski izražaj za S100A12, te viši za HMGB1 i RAGE, što potvrđuje hipotezu da postoji poremećaj alarminskog sustava na genskoj razini. U studiji GSE11909 iz baze GEO djeca s JSLE su imala povećan izražaj za 2172 signifikantnih gena koji su najviše bili zastupljeni u četiri finkcionalne skupine: geni uključeni u signalni put interferona 1, geni uključeni u signalni put interferona γ, geni uključeni u signalni put citokina, te geni uključeni u aktivaciju kaspaza. Velika zastupljenost signifikantnih gena u funkcionalnim skupinama signalnih putova interferona pokazuje uključenost gena prirođene imunosti u patogenezu JSLE. Povećan izražaj gena uključenih u aktivaciju kaspaza kod djece s JSLE bi mogao doprinositi razvoju SLE.

Abstract (english)

In this study, we investigated concentration and gene expression of alarmins S100A12, HMGB1, and their receptor RAGE in children with juvenile systemic lupus erythematosus (JSLE), as well as total gene expression of children with JSLE from GEO base study No. GSE11909. The concentrations of S100A12, HMGB1 and RAGE in children with JSLE were comparable to those in healthy children, while children with JSLE had lower expression of genes for S100A12, and higher expression of genes for HMGB1 and RAGE compared to healthy children. In the GEO base study No. GSE11909 children with JSLE had higher expression for 2172 significant genes that mostly enriched four functional groups: interferon 1 pathway genes, interferon γ pathway genes, cytokine signalization genes, and caspase activation genes. The fact that significant genes enriched functional groups encoding interferon pathway members indicates involvement of innate immunity genes in pathophysiology of JSLE, and higher expression of genes involved in activation of caspases in children with JSLE could contribute to the development of JSLE.

• Keywords: juvenilni sustavni eritemski lupus; alarmini; HMGB1; S100A12; RAGE; ukupni genski izražaj
• Keywords (english): juvenile systemic lupus erythematosus; alarmins; HMGB1; S100A12; RAGE; total gene expression
• Language: croatian
• URN:NBN: urn:nbn:hr:217:782959
• Study programme: Title: Biology; Study programme type: university; Study level: postgraduate; Academic / professional title: doktor/doktorica znanosti, područje prirodnih znanosti, polje biologija (doktor/doktorica znanosti, područje prirodnih znanosti, polje biologija)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Closed access
• Created on: 2017-05-19 09:25:29