Mitochondrial DNA copy number threshold in mtDNA depletion myopathy.

Durham SE, Bonilla E, Samuels DC, DiMauro S, Chinnery PF
Neurology. 2005 65 (3): 453-5

PMID: 16087914 · DOI:10.1212/01.wnl.0000171861.30277.88

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.

MeSH Terms (15)

Adult DNA, Mitochondrial Electron Transport Complex IV Energy Metabolism Female Gene Dosage Humans Infant Mitochondrial Myopathies Muscle, Skeletal Muscle Fibers, Skeletal Predictive Value of Tests Reference Values Succinate Dehydrogenase Thymidine Kinase

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