Vpliv dolžine telomer in polimorfizmov posameznih nukleotidov v genih povezanih z delovanjem telomeraz v vzorcih horionskih resic na spontane prekinitve nosečnosti.

Rak, Laura (author), Lovrečić, Luca (mentor)

Telomere sestavljajo tandemske DNA ponovitve (TTAGGG), ki se nahajajo na koncih kromosomov. Njihova naloga je zaščita kromosomov pred endonukleazno razgradnjo in ohranjanje stabilnosti genoma. Zadostna TL (dolžina telomer) je bistvenega pomena za normalno delovanje celičnih funkcij, saj v nasprotnem primeru prihaja do nestabilnosti kromosomov, apoptoze celice in celične disfunkcije. Dolžina telomer je dober označevalec celičnega staranja in replikativne sposobnosti. Spontana prekinitev nosečnosti je pogost zaplet med nosečnostjo in razumevanje dinamike telomer bi lahko zagotovilo vpogled v njegove vzroke. V študiji smo s pomočjo metode qPCR (kvantitativna verižna reakcija s polimerazo) preučevali funkcionalne polimorfizme posameznih nukleotidov in primerjali RTL (relativne dolžine telomer) v vzorcih horionskih resic po spontani prekinitvi nosečnosti v primerjavi s kontrolno skupino, kjer je nosečnost potekala normalno. Ugotovili smo, da relativna TL v skupini, kjer je prišlo do spontanega splava ni bila krajša, kot smo predvidevali, ampak za 3,27-krat daljša od skupine, kjer je nosečnost potekala normalno. Analiza SNP-jev (polimorfizmov posameznih nukleotidov) je pokazala, da je v skupini s spontanimi splavi značilno več alela C rs10936599 (TERC) in alela C rs2736100 (TERT), ki sta tudi sicer po rezultatih nekaterih študij povezana z daljšimi telomerami. Naša študija je kot ena prvih na tem področju pomembno prispevala k raziskavam tega področja, za dokončno povezavo med TL in spontanimi prekinitvami nosečnosti pa so potrebne dodatne študije, ki bodo vključevale več vzorcev in različne populacije.

• Language: Slovenian
• Keywords: spontana prekinitev nosečnosti, dolžina telomer, horionske resice, polimorfizmi posameznih nukleotidov, splavi
• Work type: Master's thesis/paper
• Typology: 2.09 - Master's Thesis
• Organization: BF - Biotechnical Faculty
• Year: 2024
• PID: 20.500.12556/RUL-161635
• COBISS.SI-ID: 207615491
• Publication date in RUL: 13.09.2024

RAK, Laura, 2024, Vpliv dolžine telomer in polimorfizmov posameznih nukleotidov v genih povezanih z delovanjem telomeraz v vzorcih horionskih resic na spontane prekinitve nosečnosti. [online]. Master’s thesis. [Accessed 23 April 2025]. Retrieved from: https://repozitorij.uni-lj.si/IzpisGradiva.php?lang=eng&id=161635

Secondary language

• Language: English
• Title: Telomere length and single nucleotide polymorphisms in telomerase function-associated genes in chorionic villi samples and their influence on spontaneous pregnancy loss

Abstract

Telomeres are formed of a tandem repeat DNA sequence (5′-TTAGGG-3′) and located at the end of chromosomes. Their task is to protect chromosomes from endonuclease degradation and maintain genome stability. Sufficient telomere length is essential for normal cellular function because otherwise chromosome instability, cell apoptosis and cellular dysfunction may occur. Telomere length is a good marker of cellular aging and replicative capacity. Spontaneous termination of pregnancy is a common complication during pregnancy and understanding telomere dynamics could provide insight into its causes. In this research, we studied functional single nucleotide polymorphisms using the qPCR method and compared the relative telomere length in chorionic villus samples from cases of spontaneous pregnancy loss compared to a normal pregnancy control group. Our results revealed 3.27 times longer telomeres in the group of spontaneous pregnancy loss, which was in contrast to our hypothesis, that shorter telomeres are characteristic of spontaneous abortion. Analysis of single nucleotide polymorphisms showed statistically significant predominance of allele C rs10936599 (TERC) and allele C rs2736100 (TERT) in the group of spontaneous abortion, both of which are also associated with longer telomeres according to the results of some previous studies. Our study, as one of the first in this field, made a significant contribution to research in this field, and for a definitive connection between telomere length and spontaneous pregnancy terminations, additional studies are needed that will include more samples and different populations.

• Keywords: spontaneous pregnancy loss, telomere length, chorionic villi, single nucleotide polymorphisms, abortions