magistrsko delo
Neža Molk (Author), Simon Horvat (Reviewer), Maruša Debeljak (Mentor), Urh Grošelj (Co-mentor)

Abstract

Dislipidemije povzročajo neravnovesje lipoproteinov v krvi. Njihova zgodnja diagnoza in zdravljenje sta ključnega pomena, saj sta pomemben dejavnik tveganja za razvoj srčno-žilnih bolezni. Primarne hipoholesterolemije so manj raziskana skupina dislipidemij. Zanje so značilne vrednosti celokupnega holesterola in LDL holesterola (LDL) pod 5. percentilom splošne populacije. Zgodnja diagnoza primarnih hipoholesterolemij je pomembna predvsem pri pacientih, ki imajo zaradi hipoholesterolemije nižje vrednosti lipidotopnih vitaminov. V magistrski nalogi smo raziskali genetsko ozadje hipoholesterolemij v skupini 46 otrok in mladostnikov z izmerjenimi nižjimi vrednostmi holesterola. S sekvenciranjem naslednje generacije smo določili zaporedja vseh kodirajočih elementov človeškega genoma. Analizirali smo spremembe v panelu 28 genov povezanih z nižjimi vrednostmi holesterola. Slabše pokrite spremembe smo dodatno potrjevali s sekvenciranjem po Sangerju. Pri 13 preiskovancih smo potrdili prisotnost vzročne patološke spremembe. V primerih, kjer genetskega vzroka hipoholesterolemije nismo našli, ne izključujemo možnosti obstoja sekundarnega vzroka hipoholesterolemije ali prisotnosti sprememb v drugih genih ali regijah, ki niso bili vključeni v raziskavo.

Keywords

hipoholesterolemija;holesterol;dislipidemija;genetski vzroki hipoholesterolemije;sekvenciranje naslednje generacije;

Data

Language: Slovenian
Year of publishing:
Typology: 2.09 - Master's Thesis
Organization: UL BF - Biotechnical Faculty
Publisher: [N. Molk]
UDC: 601.4:577.21:606:61:547.922(043.2)
COBISS: 174343939 Link will open in a new window
Views: 10
Downloads: 1
Average score: 0 (0 votes)
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Other data

Secondary language: English
Secondary title: Assessment of genetic background of hypocholesterolemia and correlations with clinical characteristics in children and adolescents
Secondary abstract: Early diagnosis and treatment of dyslipidemias are crucial as they disrupt the balance of lipoproteins in the blood and pose a significant risk for cardiovascular diseases. Primary hypocholesterolemias are a less known group of dyslipidemias, where total cholesterol and LDL cholesterol (LDL) values fall below the 5th percentile of the general population. Early diagnosis of primary hypocholesterolemia is especially vital for individuals with concentrations of lipid-soluble vitamins. In our study, we researched the genetic background of 46 children and adolescents with lower cholesterol levels. We performed whole exome sequencing and examined 28 genes linked to reduced cholesterol levels. We found pathogenic variants in 13 probands, some of which have not been described in the literature yet. For cases without an identified genetic cause, there might be secondary factors or changes in other genes or regions beyond our study's scope.
Secondary keywords: hypocholesterolemia;cholesterol;dyslipidemia;genetic causes of hypocholesterolemia;next generation sequencing;
Type (COBISS): Master's thesis/paper
Study programme: 0
Thesis comment: Univ. v Ljubljani, Biotehniška fak., Študij biotehnologije
Pages: 1 spletni vir (1 datoteka PDF (IX, 82 str.))
ID: 21327421