Poremećaji genskoga izražaja u bolesnika s juvenilnim seronegativnim spondiloartropatijama [Distinctive gene expression in patients with juvenile seronegative spondyloarthtopathy]

Lamot, Lovro (2014) Poremećaji genskoga izražaja u bolesnika s juvenilnim seronegativnim spondiloartropatijama [Distinctive gene expression in patients with juvenile seronegative spondyloarthtopathy]. PhD thesis, Sveučilište u Zagrebu.

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Abstract

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.

Abstract in Croatian

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.

Item Type: Thesis (PhD)
Mentors:
Mentor
Harjaček, Miroslav
Departments: Katedra za pedijatriju
Depositing User: Marijan Šember
University: Sveučilište u Zagrebu
Institution: Medicinski fakultet
Number of Pages: 143
Status: Unpublished
Creators:
CreatorsEmail
Lamot, LovroUNSPECIFIED
Date: 31 March 2014
Date Deposited: 07 May 2014 11:30
Last Modified: 07 May 2014 11:30
Subjects: /
Related URLs:
    URI: http://medlib.mef.hr/id/eprint/2100

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