ReviewProceedings of the Japan Academy. Series B, Physical and biological sciences2008
Reverse genetic studies of mitochondrial DNA-based diseases using a mouse model.
Review in Proceedings of the Japan Academy. Series B, Physical and biological sciences, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed.
- Cross-species urinary metabolomics identifies 2-hydroxyisovalerate as a candidate biomarker for mtDNA-based disorders.Metabolomics : Official journal of the Metabolomic Society · 2026Article
- Physiology and pathophysiology of mitochondrial DNA.Advances in experimental medicine and biology · 2012Review
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Authors and funding
3 authors.
Funding
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Abstract
In the situation that it would not be able to produce model animals for mitochondrial diseases caused by mitochondrial DNA (mtDNA) with pathogenic mutations, we succeeded in generating mice with pathogenic deletion mutant mtDNA (DeltamtDNA), named "mito-mice", by direct introduction of mitochondria with DeltamtDNA into mouse zygotes. In the mito-mice, accumulation of DeltamtDNA induced mitochondrial respiration defects in various tissues, resulting in mitochondrial disease phenotypes, such as low body weight, lactic acidosis, ischemia, myopathy, heart block, deafness, male infertility, and renal failure. Thus, mito-mice are the first model animal for mtDNA-based diseases, and the mice could be valuable for understanding precise pathogeneses and testing therapies of mitochondrial diseases. In the present review, we summarized reverse genetic studies using the mito-mice.(Communicated by Takao SEKIYA, M.J.A.).
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