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