Most of the genetic information has been lost or transferred to the nucleus during the
evolution of mitochondria. Nevertheless, mitochondria have retained their own genome that …

Mitochondrial diseases are some of the most common inherited neurometabolic disorders,
and major progress has been made in our understanding, diagnosis, and treatment of these …

Mitochondrial DNA copy number (mtDNA-CN) is a biomarker of mitochondrial function and
levels of mtDNA-CN have been reproducibly associated with overall mortality and a number …

Mitochondrial disorders represent a large collection of rare syndromes that are difficult to
manage both because we do not fully understand biochemical pathogenesis and because …

Mitochondrial diseases are amongst the most genetically and phenotypically diverse groups
of inherited diseases. The vast phenotypic overlap with other disease entities together with …

Genomic databases of allele frequency are extremely helpful for evaluating clinical variants
of unknown significance; however, until now, databases such as the Genome Aggregation …

Oxidative phosphorylation (OXPHOS) defects caused by somatic mitochondrial DNA
mutations increase with age in human colorectal epithelium and are prevalent in colorectal …

Mitochondria are organelles with vital functions in almost all eukaryotic cells. Often
described as the cellular 'powerhouses' due to their essential role in aerobic oxidative …

How mitochondrial DNA mutations clonally expand in an individual cell is a question that
has perplexed mitochondrial biologists for decades. A growing body of literature indicates …

Mitochondrial disease is hugely diverse with respect to associated clinical presentations and
underlying genetic causes, with pathogenic variants in over 300 disease genes currently …