Journal
EMBO REPORTS
Volume 10, Issue 2, Pages 137-143Publisher
WILEY
DOI: 10.1038/embor.2008.242
Keywords
mitochondria; mitochondrial DNA; mouse model
Categories
Funding
- European Molecular Biology organization
- Sigrid Juselius Foundation
- Academy of Finland
- University of Helsinki
- Helsinki University Central Hospital
- Helsinki Biomedical Graduate School
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Qualitative and quantitative changes in mitochondrial DNA (mtDNA) have been shown to be common causes of inherited neurodegenerative and muscular diseases, and have also been implicated in ageing. These diseases can be caused by primary mtDNA mutations, or by defects in nuclear-encoded mtDNA maintenance proteins that cause secondary mtDNA mutagenesis or instability. Furthermore, it has been proposed that mtDNA copy number affects cellular tolerance to environmental stress. However, the mechanisms that regulate mtDNA copy number and the tissue-specific consequences of mtDNA mutations are largely unknown. As post-mitotic tissues differ greatly from proliferating cultured cells in their need for mtDNA maintenance, and as most mitochondrial diseases affect post-mitotic cell types, the mouse is an important model in which to study mtDNA defects. Here, we review recently developed mouse models, and their contribution to our knowledge of mtDNA maintenance and its role in disease.
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