diplomsko delo univerzitetnega študijskega programa I. stopnje
Matic Broz (Author), Uroš Potočnik (Mentor), Katja Repnik (Co-mentor)

Abstract

Avtoimune kompleksne bolezni, kot so kronična vnetna črevesna bolezen, multipla skleroza in astma, nastanejo kot posledica delovanja genetskih in okoljskih dejavnikov. Pomembno vlogo pri nastanku teh bolezni ima oksidativni stres, saj poveča vnetje, sproži apoptozo celic ter zniža imunsko odpornost. Diplomsko delo prikazuje vpliv sprememb v genih oksidativnega stresa na razvoj astme, multiple skleroze in kronične vnetne črevesne bolezni v slovenski populaciji. V diplomskem delu smo pri slovenskih bolnikih z astmo, multiplo sklerozo in kronično vnetno črevesno bolezenijo ter pri kontrolni skupini zdravih posameznikov s tehniko talilne krivulje visoke ločljivosti genotipizirali polimorfizme posameznega nukleotida (SNP) v genih oksidativnega stresa, in sicer SNP rs4880 na genu SOD2 in SNP rs2107538 na genu CCL5. Ugotovili smo statistično značilno povezavo med polimorfizmom SNP rs4880 na genu SOD2 in multiplo sklerozo. Pri bolnikih z multiplo sklerozo je bila frekvenca alela C višja (0,559) v primerjavi s kontrolno skupino (0,471, p=0,019). To pripišemo izgubi funkcije MnSOD, do katere pride zaradi zamenjave timina s citozinom na 47. mestu. Povezave med rs2107538 na genu CCL5 in analizirami boleznimi nismo potrdili. Ugotovili smo, da SNP rs4880 na genu oksidativnega stresa SOD2 prispeva k patogenezi multiple skleroze in prav tako nakazuje na povezavo z razvojem astme. Rezultati diplomskega dela nakazujejo na vlogo genov oksidativnega stresa pri nastanku kompleksnih bolezni.

Keywords

oksidativni stres;multipla skleroza;astma;kronična vnetna črevena bolezen;diplomske naloge;

Data

Language: Slovenian
Year of publishing:
Typology: 2.11 - Undergraduate Thesis
Organization: UM FKKT - Faculty of Chemistry and Chemical Engineering
Publisher: [M. Broz]
UDC: 575.16(043.2)
COBISS: 21039382 Link will open in a new window
Views: 1298
Downloads: 187
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Other data

Secondary language: English
Secondary title: Association between polymorphisms and oxidative stress genes in patients with common complex diseases
Secondary abstract: Autoimmune complex diseases, such as chronic inflammatory bowel disease, multiple sclerosis and asthma, develop as a result of genetic and environmental factors. Oxidative stress has an important role in the development of these diseases as it increases inflammation, triggers apoptosis and weakens the immune system. Diploma thesis demonstrates influence of damaged oxidative stress genes on the development of asthma, multiple sclerosis and chronic inflammatory bowel disease in Slovenian population. In diploma we genotyped single nucleotide polymorphisms (SNP) rs4880 on SOD2 gene and rs2107538 on CCL5 gene, with a high resolution melting technique on patients with asthma, multiple sclerosis and chronic inflammatory bowel disease in Slovenian population. We found a statistically significant correlation among SNP rs4880 on SOD2 gene and multiple sclerosis. Multiple sclerosis patients had a higher allele C frequency (0,559) in comparison to control group (0,471, p=0,019). The cause of MnSOD function loss was attributed to thymine swap with cytosine on 47th nucleotide. There is no noticeable connection among rs2107538 and any of the diseases. We discovered that SNP rs4880 on SOD2 gene contributes to MS pathogenesis, as well as connection to the development of asthma. Results of the diploma thesis represent that genes of oxidative stress play a significant role in the development of complex diseases.
Secondary keywords: oxidative stress;multiple sclerosis;asthma;chronic inflammatory bowel disease;HRM;
URN: URN:SI:UM:
Type (COBISS): Bachelor thesis/paper
Thesis comment: Univ. v Mariboru, Fak. za kemijo in kemijsko tehnologijo
Pages: VIII, 27 str.
ID: 10859838