Mitochondrial genome maintenance in health and disease

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 m...

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Bibliographic Details
Published in:DNA repair 2014-07, Vol.19, p.190-198
Main Authors: Copeland, William C., Longley, Matthew J.
Format: Article
Language:English
Subjects:
DNA Damage - genetics
DNA Replication - genetics
DNA, Mitochondrial - genetics
Genome, Mitochondrial
Humans
Mitochondrial disease
Mitochondrial Diseases - genetics
Mitochondrial Diseases - pathology
Mitochondrial DNA replication
mtDNA
Mutagenesis
Mutation
Oxidative Phosphorylation
POLG
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Summary: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.
ISSN:1568-7864
1568-7856
DOI:10.1016/j.dnarep.2014.03.010