Mitochondrial diseases are a group of genetic disorders that are characterized by defects in
oxidative phosphorylation and caused by mutations in genes in the nuclear DNA (nDNA) …

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 …

Mammalian mitochondrial DNA (mtDNA) encodes 13 proteins that are essential for the
function of the oxidative phosphorylation system, which is composed of four respiratory …

The POLG gene encodes the mitochondrial DNA polymerase that is responsible for
replication of the mitochondrial genome. Mutations in POLG can cause early childhood …

Background Lack of functional evidence hampers variant interpretation, leaving a large
proportion of individuals with a suspected Mendelian disorder without genetic diagnosis …

The maintenance of mitochondrial DNA (mtDNA) depends on a number of nuclear gene-
encoded proteins including a battery of enzymes forming the replisome needed to …

Importance Mitochondrial disorders have emerged as a common cause of inherited disease,
but their diagnosis remains challenging. Multiple respiratory chain complex defects are …

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 …

Mitochondrial diseases involve the respiratory chain, which is under the dual control of
nuclear and mitochondrial DNA (mtDNA). The complexity of mitochondrial genetics provides …

Mitochondria are the oxygen-consuming power plants of cells. They provide a critical milieu
for the synthesis of many essential molecules and allow for highly efficient energy …