The mitochondrial respiratory chain has the crucial function of supplying the cell with energy
in the form of ATP. Mutations affecting this chain can arise in mitochondrial or nuclear DNA …

Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a genetically and clinically
heterogeneous group of autosomal recessive disorders that are characterized by a severe …

Seizures are often the key manifestation of neurological diseases caused by pathogenic
mutations in 169 of the genes that have so far been identified to affect mitochondrial …

In the medical literature the term 'mitochondrial disorders' is to a large extent applied to the
clinical syndromes associated with abnormalities of the common final pathway of …

▪ Abstract DNA polymerase (pol) γ is the sole DNA polymerase in animal mitochondria.
Biochemical and genetic evidence document a key role for pol γ in mitochondrial DNA …

The mitochondrial (mt) DNA depletion syndromes (MDDS) are genetic disorders
characterized by a severe, tissue-specific decrease of mtDNA copy number, leading to …

Mitochondria are cytoplasmic organelles, which generate energy as heat and ATP, the
universal energy currency of the cell. This process is carried out by coupling electron …

By convention, the term “mitochondrial diseases” refers to disorders of the mitochondrial
respiratory chain, which is the only metabolic pathway in the cell that is under the dual …

Mitochondrial genetic diseases can result from defects in mitochondrial DNA (mtDNA) in the
form of deletions, point mutations, or depletion, which ultimately cause loss of oxidative …

Mitochondrial DNA (mtDNA) is replicated by the DNA polymerase g in concert with
accessory proteins such as the mtDNA helicase, single stranded DNA binding protein …