Mitochondrial genome maintenance in health and disease

摘要: 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 can compromise cellular respiration, ultimately resulting in a variety progressive metabolic diseases collectively known as ‘mitochondrial diseases’. Mutagenesis mtDNA the persistence mutations cells tissues is complex topic, involving interplay replication, damage repair, purifying selection, organelle dynamics, mitophagy, aging. We briefly review these general elements affect maintenance mtDNA, we focus on nuclear genes encoding replication machinery perturb genetic integrity mitochondrial genome.