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Genetski vzroki za razvoj diabetične retinopatije
ID Tajnšek, Špela (Author), ID Kunej, Tanja (Mentor) More about this mentor... This link opens in a new window, ID Petrovič, Daniel (Co-mentor)

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PID: 20.500.12556/rul/d29ebde6-8839-4f60-9a5a-8ef21b009451

Abstract
Diabetična retinopatija (DR) je bolezen, ki se pojavi kot posledica slabo urejene sladkorne bolezni, tako tipa 1 kot tudi tipa 2. Delimo jo v dve podskupini: neproliferativno diabetično retinopatijo (NPDR) in proliferativno diabetično retinopatijo (PDR). Za to bolezen je značilno, da se v očesnem ozadju pojavljajo mikrovaskularne nepravilnosti, ki lahko v končni fazi privedejo do izgube vida. Število genov, ki so povezani z nastankom te bolezni narašča. Glede na povezanost s podtipom bolezni, ločimo tri skupine genov: geni povezani z NPDR, geni povezani z PDR in geni, ki so jih poročali v povezavi z obema oblikama bolezni. Najbolj raziskani v povezavi z DR so VEGFA, AKB1R1 in AGER, vendar na področju še ni preglednega članka, ki bi zajemal vse genetske dejavnike, udeležene v razvoj bolezni. V diplomskem delu smo zato izvedli pregled znanstvene literature, objavljene od leta 1981 do 2017 in zbrali 207 genov, povezanih z boleznijo pri človeku, podgani, miši, govedu, prašiču in psu. Izmed teh genov jih je bilo 129 povezanih z NPDR, 48 s PDR in 30 genov, ki so udeleženi v razvoj obeh oblik bolezni. Z zbiranjem teh podatkov smo izdelali najbolj popoln katalog genov, povezanih z DR in/ali PDR. Za zdravljenje naprednih faz DR se uporabljajo dokaj invazivni postopki zdravljenja kot sta npr. injiciranje anti-VEGF in vitrektomija. Da bi lahko pripomogli k razvoju novih, manj invazivnih in bolj tarčnih pristopov zdravljenja, je potrebno zbrati čim več podatkov o genetskem ozadju in samem nastanku bolezni, kar je omogočila tudi zbirka genov, izdelana v okviru naše analize literature.

Language:Slovenian
Keywords:genetika, diabetična retinopatija, polimorfizmi, zdravljenje
Work type:Bachelor thesis/paper
Typology:2.11 - Undergraduate Thesis
Organization:BF - Biotechnical Faculty
Publisher:[Š. Tajnšek]
Year:2017
PID:20.500.12556/RUL-95653 This link opens in a new window
UDC:606:616.379-008.64:617.735:575.112(043.2)
COBISS.SI-ID:8813689 This link opens in a new window
Publication date in RUL:21.09.2017
Views:2120
Downloads:295
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Secondary language

Language:English
Title:Genetic causes for development of diabetic retinopathy
Abstract:
Diabetic retinopathy is a disease that occurs due to poorly handled type 1 or type 2 diabetes. It is divided into two subgroups: nonproliferative diabetic retinopathy (NPDR) and proliferative diabetic retinopathy (PDR). This disease si characterized by microvascular abnormalities in eye backgroud, which can lead to vision loss. The number of genes that are associated with formation of disease is increasing. According to the disease subtype, three groups of genes are distinguished: genes associated with NPDR, genes associated with PDR and genes reported in association with both forms of the disease. Most frequently researched genes associated with diabetic retinopathy are: VEGFA, AKB1R1 and AGER, but there is still no complete review article covering all the genetic factors involved in the development of the disease. In the present thesis we performed a review of the scientific literature, published between 1981 and 2017 and collected 207 genes associated with the disease in human, rat, mouse, cattle, pig, and dog. Among these genes, 129 were associated with NPDR, 48 with PDR and 30 genes involved in the development of both disease forms. By obtaining this data we developed the most complete catalog of genes associated with DR and/or PDR. For treatment of advanced stages of DR very invasive treatments such as anti-VEGF injections and vitrectomy are used. In order to contribute to the development of new, less invasive and more targeted treatments it is necessary to collect as much information as possible about the genetic background and the onset of the disease, which was also made possible by the collection of genes developed in our literature analysis.

Keywords:genetics, diabeitic retinopathy, polymorphisms, treatment

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