Background Mitochondrial dysfunction is a hallmark of cancer. However, it is unclear
whether it is a cause of cancer. This two-sample Mendelian randomization (MR) analyses …

Current research lacks comprehensive investigations into the potential causal link between
mitochondrial-related genes and the risk of neurodegenerative diseases (NDDs). We aimed …

Background Telomere length (TL) and mitochondrial function expressed as mitochondrial
DNA copy number (mtDNAcn) are biomarkers of aging and oxidative stress and …

Abstract Chronic Kidney Disease (CKD) stands as a substantial challenge within the global
health landscape. The elevated metabolic demands essential for sustaining normal kidney …

Background and Objectives: Atherosclerosis is one of the main reasons for cardiovascular
disease development. This study aimed to analyze the association of mtDNA mutations and …

PARS2 encodes an aminoacyl‐tRNA synthetase that catalyzes the ligation of proline to
mitochondrial prolyl‐tRNA molecules. Diseases associated with PARS2 primarily affect the …

Aicardi-Goutières syndrome (AGS) is a genetic type I interferon (IFN)-mediated disease
characterised by neurological involvement with onset in childhood. Chronic inflammation in …

Background: Earlier clinical detection of cancer may improve survival as well as offer
opportunities for less invasive treatment options. This thesis explores whether the …

A fundamental goal of human genetics is to understand the genetic architecture of a trait or
disease, a conceptual framework that relates genotype to phenotype. Genetic architectures …

BackgroundTelomere length (TL) and mitochondrial function expressed as mitochondrial
DNA copy number (mtDNAcn) are biomarkers of aging and oxidative stress and …