diplomsko delo univerzitetnega študijskega programa I. stopnje
Gregor Jezernik (Avtor), Uroš Potočnik (Mentor)

Povzetek

V diplomskem delu smo proučevali povezavo med polimorfizmi genov, ki sodelujejo pri presnovi maščobnih kislin, in profilom maščobnih kislin bolnikov s pogostimi kompleksnimi boleznimi. Namen dela je bilo ugotoviti povezavo med genotipom posameznega polimorfizma in masnimi deleži maščobnih kislin v eritrocitih, torej da prisotnost bolezenskega alela spremeni maščobno sestavo. Po preučevanju dosedanje literature smo izbrali primerne polimorfizme na genih, ki bi lahko vplivali na maščobni profil. Nato smo vzorce DNK genotipizirali z metodo RFLP ali s HRM. Genotipizirali smo slovenske bolnike z astmo (51), kronično vnetno črevesno boleznijo (103), polipi debelega črevesa (17), miomi maternice (52) in kontrolni skupini zdravih posameznikov (82) za SNP-ja v genih LTA4H, ki kodira encim levkotrien A4 hidrolazo, in PTGS2, ki kodira encim prostaglandin-endoperoksid sintazo 2. Funkcija encima LTA4H je hidrolizirati levkotrien A4 v levkotrien B4; encim PTGS2 pa metabolizira arahindonsko kislino v PGH2. Podatke pridobljene z genotipizacijo smo statistično obdelali. Asociacijska študija je pokazala statistično signifikantno povezavo med bolezenskim alelom za SNP rs2540487 na genu LTA4H in patogenezo miomov maternice (p = 0,031). Rezultati kažejo več statistično signifikantnih povezav med profilom maščobnih kislin in genotipom polimorfizma rs2540487 v genu LTA4H; pri bolezenskih alelih zmanjšan delež adrenske in Osbondove kisline in povišan delež oleinske kisline. Adrenska in Osbondova kislina sta produkta arahidonske kisline pri podaljševanju omega-6 maščobnih kislin, kar bi lahko pomenilo, da se arahidonska kislina hitreje presnavlja po drugih metabolnih poteh. Razlog takšni spremembi v metabolizmu je povečano delovanje encima LTA4H, ki je povezano s SNP-jem rs2540487.

Ključne besede

profil maščobnih kislin;kompleksne bolezni;levkotrieni;garahidonska kislina;vnetni odziv;

Podatki

Jezik: Slovenski jezik
Leto izida:
Tipologija: 2.11 - Diplomsko delo
Organizacija: UM FKKT - Fakulteta za kemijo in kemijsko tehnologijo
Založnik: [G. Jezernik]
UDK: 575:543.635.3(043.2)
COBISS: 18224662 Povezava se bo odprla v novem oknu
Št. ogledov: 1651
Št. prenosov: 118
Ocena: 0 (0 glasov)
Metapodatki: JSON JSON-RDF JSON-LD TURTLE N-TRIPLES XML RDFA MICRODATA DC-XML DC-RDF RDF

Ostali podatki

Sekundarni jezik: Angleški jezik
Sekundarni naslov: A COMPARISON OF THE INFLUENCE OF DNA POLYMORPHISMS IN THE GENES INVOLVED IN LIPID METABOLISM ON THE FATTY ACID PROFILES AMONG THE PATIENTS WITH DIFFERENT COMPLEX DISEASES
Sekundarni povzetek: We investigated the relationship between polymorphisms of genes involved in the metabolism of fatty acids and the fatty acid profile of patients with frequent complex diseases. The purpose of the work was to establish a statistically significant link between the genotype of the chosen polymorphism and weight percentages of fatty acids in erythrocytes, in other words, that the presence of the mutated allele alters the fatty composition. After examining existing literature, we selected suitable polymorphisms in genes that could affect the lipid profile. Then, the samples of DNA were tested with RFLP or by the HRM method. Slovenian patients with asthma (51), inflammatory bowel disease (103), colorectal polyps (17), uterine myomas (52) and a control group of healthy individuals (82) were genotyped for the SNP in genes LTA4H encoding the enzyme leukotriene A4 hydrolase and PTGS2 encoding the enzyme prostaglandin endoperoxide synthase 2. The LTA4H enzyme is hydrolyzed leukotriene A4 to leukotriene B4; PTGS2 enzyme metabolizes arahidonic acid to PGH2. The data obtained by genotyping were statistically analyzed. The association study showed a statistically significant link between the disease allele of SNP rs2540487 in the LTA4H gene and the pathogenesis of uterine myomas (p = 0.031). The results show a number of statistically significant relationships between the fatty acid profile of patients and polymorphism rs2540487 genotype in the gene LTA4H; in disease alels the level of adrenic and Osbond acid is reduced while the level of oleic acid is increased. Adrenic and Osbond acid are products of arachidonic acid in the omega-6 fatty acid elongation process, which could mean that arachidonic acid is metabolized though other pathways. The reason for such a change is an increase in LTA4H enzyme activity, which is linked to the SNP rs2540487.
Sekundarne ključne besede: profile of fatty acids;complex disease;leukotrienes;arachidonic acid;inflammatory response;
URN: URN:SI:UM:
Vrsta dela (COBISS): Diplomsko delo/naloga
Komentar na gradivo: Univ. v Mariboru, Fak. za kemijo in kemijsko tehnologijo
Strani: IX 38 str.
ID: 8730400