Mitochondrial genome maintenance in health and disease |
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| Affiliation: | 1. Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, Copenhagen, Denmark;2. Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark;3. Pediatrics Department, Herning Hospital, Herning, Denmark;4. Pediatrics Department, Nykoebing Falster Hospital, Nykoebing Falster, Denmark;1. Division of Clinical Genetics and Metabolic Disorders, Pediatrics Department, Tawam Hospital, Al-Ain, United Arab Emirates;2. Division of Neurology, Pediatrics Department, Tawam Hospital, Al Ain, United Arab Emirates;3. Medical Genetics Division, King Fahad Medical City, Riyadh, Saudi Arabia;4. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA;5. Texas Children''s Hospital, Houston, TX, USA;6. Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, ShaTin, Hong Kong Special Administrative Region |
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| Abstract: | Human mitochondria harbor an essential, high copy number, 16,569 base pair, circular DNA genome that encodes 13 gene products required for electron transport and oxidative phosphorylation. Mutation of this genome can compromise cellular respiration, ultimately resulting in a variety of progressive metabolic diseases collectively known as ‘mitochondrial diseases’. Mutagenesis of mtDNA and the persistence of mtDNA mutations in cells and tissues is a complex topic, involving the interplay of DNA replication, DNA damage and repair, purifying selection, organelle dynamics, mitophagy, and aging. We briefly review these general elements that affect maintenance of mtDNA, and we focus on nuclear genes encoding the mtDNA replication machinery that can perturb the genetic integrity of the mitochondrial genome. |
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| Keywords: | POLG Mitochondrial DNA replication mtDNA Mitochondrial disease Mutagenesis |
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