Different copy numbers of apparently identically deleted mitochondrial DNA in tissues from a patient with Kearns-Sayre syndrome detected by PCR

Biochem Biophys Res Commun. 1990 Jun 29;169(3):1007-15. doi: 10.1016/0006-291x(90)91994-4.


An apparently identical deletion of 4.977 bp in length (position 8,483-13,459) was detectable in the mitochondrial DNA from skeletal muscle, heart muscle, kidney, and liver of a patient with Kearns-Sayre syndrome. The proportion of deleted genome varied from 60% for the skeletal muscle to 15% for heart muscle and kidney, and was below 5% in the liver. The mtDNA heteroplasmy of the liver was only detectable after amplification by PCR. In skeletal and heart muscle histochemical and immunocytochemical findings concerning cytochrome c oxidase were in good correlation with the proportion of deleted mitochondrial DNA.

Publication types

  • Case Reports

MeSH terms

  • Base Sequence
  • Blotting, Southern
  • DNA Probes
  • DNA, Mitochondrial / genetics*
  • DNA, Mitochondrial / metabolism
  • Heart Block / genetics*
  • Humans
  • Kidney / metabolism
  • Liver / metabolism
  • Mitochondria / metabolism*
  • Molecular Sequence Data
  • Muscles / metabolism
  • Myocardium / metabolism
  • Ophthalmoplegia / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Retinal Degeneration / genetics*
  • Syndrome


  • DNA Probes
  • DNA, Mitochondrial