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doctoral thesis
Poremećaji genskoga izražaja u bolesnika s juvenilnim seronegativnim spondiloartropatijama
Zagreb: University of Zagreb, School of Medicine, 2014. urn:nbn:hr:105:914213
Lamot, Lovro
University of Zagreb
School of Medicine

Institutional repository: Dr Med - University of Zagreb School of Medicine Digital Repository

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Lamot, L. (2014). Poremećaji genskoga izražaja u bolesnika s juvenilnim seronegativnim spondiloartropatijama (Doctoral thesis). Zagreb: University of Zagreb, School of Medicine. Retrieved from https://urn.nsk.hr/urn:nbn:hr:105:914213

Lamot, Lovro. "Poremećaji genskoga izražaja u bolesnika s juvenilnim seronegativnim spondiloartropatijama ." Doctoral thesis, University of Zagreb, School of Medicine, 2014. https://urn.nsk.hr/urn:nbn:hr:105:914213

Lamot, Lovro. "Poremećaji genskoga izražaja u bolesnika s juvenilnim seronegativnim spondiloartropatijama ." Doctoral thesis, University of Zagreb, School of Medicine, 2014. https://urn.nsk.hr/urn:nbn:hr:105:914213

Lamot, L. (2014). 'Poremećaji genskoga izražaja u bolesnika s juvenilnim seronegativnim spondiloartropatijama ', Doctoral thesis, University of Zagreb, School of Medicine, accessed 30 November 2024, https://urn.nsk.hr/urn:nbn:hr:105:914213

Lamot L. Poremećaji genskoga izražaja u bolesnika s juvenilnim seronegativnim spondiloartropatijama [Doctoral thesis]. Zagreb: University of Zagreb, School of Medicine; 2014 [cited 2024 November 30] Available at: https://urn.nsk.hr/urn:nbn:hr:105:914213

L. Lamot, "Poremećaji genskoga izražaja u bolesnika s juvenilnim seronegativnim spondiloartropatijama ", Doctoral thesis, University of Zagreb, School of Medicine, Zagreb, 2014. Available at: https://urn.nsk.hr/urn:nbn:hr:105:914213

Metadata
TitlePoremećaji genskoga izražaja u bolesnika s juvenilnim seronegativnim spondiloartropatijama
Title (english)Distinctive gene expression in patients with juvenile seronegative spondyloarthtopathy
AuthorLovro Lamot
Mentor Miroslav Harjaček (mentor)
Committee membernije dostupno (član povjerenstva)
GranterUniversity of Zagreb
School of Medicine
Zagreb
Defense date and country2014-03-31, Croatia
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Universal decimal classification
(UDC)		61 - Medical sciences
Abstract
Uvod: Juvenilni spondiloartritis (jSpA) je naziv za skupinu upalnih bolesti nepredvidivog tijeka koje imaju mnoga preklapajuća obilježja, a javljaju se u djece prije 16. godine života. Najčešće se povezuju s HLA-B27 genotipom, no mnoga istraživanja pokazala su da postoji niz do sada nepoznatih gena izvan HLA sustava koji utječu na razvoj bolesti. ----- Sudionici i metode: U istraživanju je sudjelovalo 45 djece s poznatim HLA genotipom, kojima je dijagnoza nediferencirane jSpA postavljena pomoću ILAR-ovih kriterija, 11 djece s postavljenom dijagnozom drugog oblika JIA-a te 12 djece bez dijagnoze upalne bolesti. Kod 11 djece s jSpA i kod četvero djece bez dijagnoze upalne bolesti učinjena je analiza genskoga izražaja pomoću DNA čipa te bioinformatička analiza dobivenih rezultata. Kod svih sudionika učinjena je qRT-PCR analiza deset pomno odabranih gena. ----- Rezultati: Analiza na DNA čipu pokazala je da kod bolesnika s jSpA postoji razlika u izražaju 745 gena koji sudjeluju u raznim upalnim procesima, dok je qRT-PCR analiza potvrdila da su dobiveni rezultati univerzalni i specifični za bolesnike s jSpA. ----- Zaključak: Rezultati provedenog istraživanja pokazali su da je jSpA poligenska bolest u kojoj dolazi do poremećaja u prepoznavanju patogena i aktivaciji imunološkog odgovora, u migraciji upalnih stanica te u regulaciji imunuloškog sustava, zbog čega mogu poslužiti kao putokaz za daljnja istraživanja patogenetskih mehanizama i novih modaliteta liječenja.
Abstract (english)
Introduction: Juvenile spondyloarthritis (jSpA) refers to spectrum of unpredictable inflammatory diseases with overlapping features in children younger than 16 years. There is a strong association of jSpA with HLA-B27 genotype, but many studies shows that other genetic factors, of which we have little or no knowledge, plays a role in the development of jSpA. ----- Patients and methods: In this study participated 45 children with obtained HLA genotype and diagnosis of jSpA according to ILAR criteria, as well as 11 children with other forms of JIA and 12 children without diagnosis of inflammatory disease. DNA microarray gene expression was preformed in 11 patients with jSpA and in 4 participants without diagnosis of inflammatory disease, along with bioinformatic analysis of retrieved data. Carefully selected differentially expressed genes where analyzed by qRT-PCR in all participants. ----- Results: Microarray results and bioinformatic analysis revealed 745 differentially expressed genes involved in various inflammatory processes in jSpA patients, while qRT-PCR analysis confirmed data universality and specificity. ----- Conclusion: Our findings showed that jSpA is polygenic disease with malfunction in antigen recognition and activation of immunological response, in migration of inflammatory cells and in regulation of the immune system. Results of our study can be used for further investigation of disease patophisiology and new treatment options.
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:105:914213
Study programmeTitle: Biomedicine and Health Sciences
Study programme type: university
Study level: postgraduate
Academic / professional title: doktor/doktorica znanosti, područje biomedicine i zdravstva (doktor/doktorica znanosti, područje biomedicine i zdravstva)
Type of resourceText
Extent143 str.
File originBorn digital
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2023-05-05 07:15:13