Abstract
The major function of mitochondria is to generate energy. Mitochondria fulfill this main task by synthesizing ATP from the energy released during the oxidation of substrates and cofactors, a process known as oxidative phosphorylation. Essential for this process is the respiratory chain, a four-enzyme system composed of multiprotein complexes located at the inner mitochondrial membrane. The complexes are responsible for the redox processes that are accompanied by electron transfer and proton pumping activities leading to a membrane potential across the inner mitochondrial membrane. The entire oxidative phosphorylation system is completed by a fifth complex, the ATP synthase, which converts the membrane potential into ATP by condensing ADP and phosphate. The genes required for this energy-generating system are distributed throughout two genomes—the nuclear and the mitochondrial genome. While mitochondria contain the only source of endogenous extrachromosomal DNA, its genes contain the information for only 13 polypeptides of the oxidative phosphorylation system (OXPHOS) system as well as a set of 2 rRNAs and 22 tRNAs essential for their expression. The human mtDNA has evolved to show remarkable economy of organization, containing only a short section of noncoding DNA that is known as the D-loop. However, this region does contain sequences important for replication and transcription of the genome.
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Seibel, P., Schliebs, M., Flierl, A. (1999). Strategy toward Gene Therapy of Mitochondrial DNA Disorders. In: Papa, S., Guerrieri, F., Tager, J.M. (eds) Frontiers of Cellular Bioenergetics. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-4843-0_26
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