Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice | Proceedings of the National Academy of Sciences thumbnail
Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice | Proceedings of the National Academy of Sciences
www.pnas.org
“deletor” mice do not, however, show premature aging, indicating that subtle accumulation of mtDNA deletions and progressive respiratory chain dysfunction are not sufficient to accelerate aging muscles of the mice faithfully replicate all of the key histological, genetic, and biochemical features of
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  • “deletor” mice do not, however, show premature aging, indicating that subtle accumulation of mtDNA deletions and progressive respiratory chain dysfunction are not sufficient to accelerate aging
  • muscles of the mice faithfully replicate all of the key histological, genetic, and biochemical features of PEO patients
  • mice have progressive deficiency of cytochrome c oxidase in distinct neuronal populations
  • generated transgenic mice expressing mouse Twinkle with PEO patient mutations
  • Multiple mtDNA deletions accumulate in the tissues of these mice, resulting in progressive respiratory dysfunction

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