Mitochondrial DNA copy number threshold in mtDNA depletion myopathy.
case_series · Level IV
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- Record sourced from PubMed, PMID 16087914.
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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.
Medical subject headings
- DNA, Mitochondrial
- Energy Metabolism
- Gene Dosage
- Mitochondrial Myopathies
- Muscle, Skeletal
- Thymidine Kinase