Mitochondrial sequences Detailed sample and variant quality control are described in the supplementary methods. In special consideration of mtDNA-CN as the GWAS phenotype, we also removed variants within “NUMTs”, which refer to regions of the nuclear genome that exhibit homology to the mitochondrial genome Due to past transposition of mitochondrial sequences. After quality control, 359,689… Continue reading
Mitochondrial DNA deletions are associated with non-B DNA conformations
To interrogate mtDNA-CN as a potential determinant of human diseases, we performed extensive genetic investigations in up to 395,781 participants from the UKBiobank study. We first developed and validated a novel method for biobank-scale mtDNA-CN investigations that leverages SNP array intensities, called “AutoMitoC”. Various analyses were then conducted to build on previous publications regarding the… Continue reading
Mitochondrial DNA and rate metabolic
While previous studies demonstrate that mtDNA-CN is a biomarker of mitochondrial activity associated with various diseases, evidence suggests that it may also play a direct and causative role in human health and disease. Forle, in cases of mtDNA depletion syndrome, wherein rare defects in nuclear genes responsible for replicating and/or maintainingNA lead to deficient mtDNA-CN.… Continue reading
Mitochondrial-genome-encoded RNAs
Mitochondria are semi-autonomous organelles present in nearly every human cell that execute fundamental cellular processes including oxidative phosphorylation, calcium storage, and apoptotic signalling. Mitochondrial dysfunction has been implicated as the underlying cause for many human disorders based on mechanistic in vitro and in vivo studies . Complementary evidence comes from recent epidemiological studies that measure mitochondrial DNA Copy Number… Continue reading