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Title:Vpliv DNA polimorfizmov v genih FADS1, FADS2, ALOX5, ALOX15 ter CYP4F3 na profile maščobnih kislin pri kompleksnih boleznih
Authors:ID Veselič, Uroš (Author)
ID Potočnik, Uroš (Mentor) More about this mentor... New window
Files:.pdf UN_Veselic_Uros_2015.pdf (2,31 MB)
MD5: 07976FA88AE0EEE8ABE77B7EC0962B70
 
Language:Slovenian
Work type:Bachelor thesis/paper
Typology:2.11 - Undergraduate Thesis
Organization:FKKT - Faculty of Chemistry and Chemical Engineering
Abstract:Ugotavljali smo vpliv polimorfizmov v genih FADS1, FADS2, ALOX5, ALOX15 in CYP4F3 na profile maščobnih kislin. V diplomskem delu smo se osredotočili na vplive izbranih polimorfizmov na profile maščobnih kislin. V do sedaj raziskani literaturi smo zasledili, da naj bi na pojav pogostih kompleksnih bolezni, kot so kronična vnetna črevesna bolezen (KVČB), astma, miomi maternice ter črevesni polipi, znatno vplivali polimorifzmi posameznega nukleotida (SNP) rs174537 na genu FADS1, rs11230815 na genu FADS2, rs2228065 na genu ALOX5, rs1076039 na genu ALOX15 ter polimorfizem SNP rs1290617 na genu CYP4F3. Genotipizacijo smo opravljali na skupini 241 bolnikov z različnimi kompleksnimi boleznimi in na skupini 84 kontrol. Vpliv FADS1 in FADS2 se kaže predvsem v regulaciji nenasičenosti maščobnih kislin v telesu preko aktivnosti encima Δ5 in Δ6 desaturaze. Nadalje ALOX5 kodira encim 5-lipoksigenazo, ki pretvarja arahidonsko kislino v leukotriene, ki jih povezujejo z vnetji črevesja in ostalih avtoimunih bolezni. ALOX15 kodira encim 15-lipoksigenazo , ki pretvarja arahidonsko kislino v 15-hidroperoksieikosatetra- enojsko kislino kot tudi linolensko kislino, je še eden izmed faktorjev, ki ga povezujejo z genetiko avtoimunih bolezni. Gen CYP4F3 pa je pomemben faktor pri vnetnih procesih v telesu, ker upočasnjuje pretvorbo maščobnih kislin v protivnetno DHA (dokozaheksaenojsko kislino).
Keywords:maščobne kisline, polimorfizmi, kompleksne bolezni, metabolomika, vnetja
Place of publishing:Maribor
Publisher:[U. Veselič]
Year of publishing:2015
PID:20.500.12556/DKUM-54085 New window
UDC:575.111(043.2)
COBISS.SI-ID:19084310 New window
NUK URN:URN:SI:UM:DK:ODVTQQ0V
Publication date in DKUM:30.10.2015
Views:2643
Downloads:122
Metadata:XML DC-XML DC-RDF
Categories:KTFMB - FKKT
:
VESELIČ, Uroš, 2015, Vpliv DNA polimorfizmov v genih FADS1, FADS2, ALOX5, ALOX15 ter CYP4F3 na profile maščobnih kislin pri kompleksnih boleznih [online]. Bachelor’s thesis. Maribor : U. Veselič. [Accessed 26 April 2025]. Retrieved from: https://dk.um.si/IzpisGradiva.php?lang=eng&id=54085
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Secondary language

Language:English
Title:Influence of DNA polymorphisms in genes FADS1, FADS2, ALOX5, ALOX15 and CYP4F3 on fatty acid profiles in complex diseases
Abstract:We were examining the influence of polymorphisms in genes FADS1, FADS2, ALOX5, ALOX15 and CYP4F3 on fatty acid profiles. We have focused on the influences of polymorphisms SNP rs174537 on gene FADS1, rs11230815 on FADS2, rs2228065 on ALOX5, rs1076039 on ALOX15 and polymorphism SNP rs1290617 on gene CYP4F3 on common complex diseases, such as asthma, inflammatory bowel disease, uterine myoma and colorectal polyposis. Genotyping has been conducted on 241 samples of patients with complex diseases and 84 samples of healthy individuals. The influence of FADS1 and FADS2 is mainly seen through the regulation of unsaturated fatty acids, more percisely through enzymes Δ5 and Δ6 desaturase. ALOX5 gene encodes the enzyme 5-lipoxygenase which converts arachidonic acid into leukotrienes, which are known to be the main cause of inflammatory bowel disease. ALOX15 is also thought to be the link to many complex diseases through the conversion of arachidonic acid to 15-hydroperoxieicosatertraenoic acid as well as linolenic acid. CYP4F3 is also considered to be the gene involved in inflammatory processes in the body as it reduces the effect of reducing the effect of metabolism of DHA (docosahexaenoic acid), which is one of the anti-inflammatory mediators.
Keywords:fatty acids, polymorphisms, complex diseases, metabolomics, inflammation


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