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  • Title: Mitochondrial DNA copy number threshold in mtDNA depletion myopathy.
    Author: Durham SE, Bonilla E, Samuels DC, DiMauro S, Chinnery PF.
    Journal: Neurology; 2005 Aug 09; 65(3):453-5. PubMed ID: 16087914.
    Abstract:
    The authors measured the absolute amount of mitochondrial DNA (mtDNA) within single muscle fibers from two patients with thymidine kinase 2 (TK2) deficiency and two healthy controls. TK2 deficient fibers containing more than 0.01 mtDNA/microm3 had residual cytochrome c oxidase (COX) activity. This defines the minimum amount of wild-type mtDNA molecules required to maintain COX activity in skeletal muscle and provides an explanation for the mosaic histochemical pattern seen in patients with mtDNA depletion syndrome.
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