Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome

Biochem Biophys Res Commun. 1989 Apr 28;160(2):765-71. doi: 10.1016/0006-291x(89)92499-6.

Abstract

We have analyzed heteroplasmy of mitochondrial DNA in clonal cultures from two patients with Kearns-Sayre syndrome, and have found that individual muscle or fibroblast clones contained either a mixed (i.e. heteroplasmic) population of normal and deleted mitochondrial DNAs, or only normal mitochondrial DNAs (i.e. homoplasmic at a level of detection of less than 1% deleted genomes). The heteroplasmic clones grew significantly more slowly than did "homoplasmic" clones, probably due to defects of respiratory chain enzymes containing mtDNA-encoded polypeptides.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chromosome Deletion
  • Clone Cells / analysis
  • Clone Cells / pathology
  • DNA, Mitochondrial / analysis*
  • DNA, Mitochondrial / genetics
  • Electron Transport Complex IV / genetics
  • Fibroblasts / analysis
  • Fibroblasts / enzymology
  • Fibroblasts / pathology*
  • Humans
  • Kearns-Sayre Syndrome / enzymology
  • Kearns-Sayre Syndrome / genetics*
  • Kearns-Sayre Syndrome / pathology
  • Muscles / analysis
  • Muscles / enzymology
  • Muscles / pathology*
  • Ophthalmoplegia / genetics*
  • Succinate Dehydrogenase / genetics

Substances

  • DNA, Mitochondrial
  • Succinate Dehydrogenase
  • Electron Transport Complex IV