Mitochondria are double‐membrane‐bound organelles that are present in all nucleated
eukaryotic cells and are responsible for the production of cellular energy in the form of ATP …

Massively parallel DNA-sequencing systems provide sequence of huge numbers of different
DNA strands at once. These technologies are revolutionizing our understanding in medical …

Mitochondria are one of the most important organelles in cells. Mitochondria are semi-
autonomous organelles with their own genetic system, and can independently replicate …

Mitochondrial disease is a challenging area of genetics because two distinct genomes can
contribute to disease pathogenesis. It is also challenging clinically because of the myriad of …

Human mitochondrial ribosomes are highly divergent from all other known ribosomes and
are specialized to exclusively translate membrane proteins. They are linked with hereditary …

Following the “finished,” euchromatic, haploid human reference genome sequence, the
rapid development of novel, faster, and cheaper sequencing technologies is making …

Mitochondrial ribosomes (mitoribosomes) perform protein synthesis inside mitochondria, the
organelles responsible for energy conversion and adenosine triphosphate production in …

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

Mitochondrial disorders are characterized by a broad clinical spectrum. Identical clinical
signs and symptoms can be caused by mutations in different mitochondrial or nuclear …

Introduction In the last 10 years the field of mitochondrial genetics has widened, shifting the
focus from rare sporadic, metabolic disease to the effects of mitochondrial DNA (mtDNA) …