Analiza mitohondrijskog genoma kod pacijenata s teškim oblikom bolesti COVID-19

master's thesis

• Title (english): Analysis of mitochondrial genome in patients with severe COVID-19
• Author: Andro Zec
• Mentor: Kristian Vlahoviček (mentor)
• Committee member: Kristian Vlahoviček (predsjednik povjerenstva)
• Committee member: Petra Korać (član povjerenstva)
• Committee member: Sunčica Bosak (član povjerenstva)
• Committee member: Tomislav Ivanković (član povjerenstva)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2023-05-26, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

Cijeli svijet je zahvaćen pandemijom virusa SARS-CoV-2 koji uzrokuje bolest COVID-19. To
je uzrokovalo širok spektar društvenih problema poput zdravstvenih i financijskih. Stoga se
ovaj rad usredotočio na pronalazak novih metoda detekcije te otkrivanja rizičnih čimbenika iz
aspekta mitohondrijskog genoma. Mitohondriji su često zahvaćeni virusnim infekcijama i zbog
toga se postavlja pitanje postoji li mitohondrijska makrohaplogrupa koja svoje nositelje stavlja
pod veći rizik od razvijanja težih simptoma. Korištenjem naprednog sekvenciranja, analizirani
su uzorci mitohondrijske DNA zaraženih osoba oboljelih od teških simptoma. Nije dobivena
statistički važna distribucija makrohaplogrupa u usporedbi s uzorcima opće populacije
Republike Hrvatske. Osim distribucije makrohaplogrupa provjerena je prisutnost nesinonimnih
mutacija i heteroplazmijskih mutacija, ali ni tamo nisu dobiveni podatci koji uvelike odstupaju
od opće populacije Republike Hrvatske. Otkrivene su izrazito malo istražene mutacije koje se
u budućnosti trebaju detektirati u drugim istraživanjima kako bi se mogla provesti detaljna
analiza učinka tih mutacija na mitohondrijske proteine. Unatoč manjku novih otkrića,
analizirani uzorci su izrazito vrijedni zbog vremenskog razdoblja u kojemu su prikupljeni te
mogu dati korisne podatke u budućim studijama.

Abstract (english)

The entire world has been caught in the SARS-CoV-2 pandemic, which causes COVID-19. It
caused a wide spectrum of social problems ranging from financial to public health issues.
Because of this, the master thesis focused on discovering new methods of detecting the virus
and discovering new risk factors regarding the mitochondrial genome. Mitochondria are
commonly targeted by viral infections and because of this the question becomes, are some
mitochondrial macrohaplogroups more susceptible to developing more severe symptoms.
Using advanced sequencing, we have analysed the mitochondrial DNA samples of patients with
severe COVID-19. There was no statistical significance detected regarding the distribution of
macrohaplogroups compared to the samples of the general population in Croatia. Besides the
distribution of macrohaplogroups we also analysed non-synonimous mutations and
heteroplasmic mutations. There was also no significant difference detected in that regard. We
found some mutations that have never been described and have to be detected in different
studies in order to conduct a thorough analysis on their impact on the mitochondria. Despite
there being no new discoveries, these samples are very valuable because of the time period they
were obtained in and these results can prove to be very helpful in future studies

• Keywords: mitohondrijske makrohaplogrupe; heteroplazmije; nesinonimne mutacije; sekvenciranje
• Keywords (english): Mitochondrial macrohaplogroups; heteroplasmy; non-synonimous mutations; sequencing
• Language: croatian
• URN:NBN: urn:nbn:hr:217:757500
• Study programme: Title: Molecular Biology; Study programme type: university; Study level: graduate; Academic / professional title: magistar/magistra molekularne biologije (magistar/magistra molekularne biologije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Embargoed access; Embargo expiration date: 2025-05-26
• Created on: 2023-07-06 13:34:15