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

Carlos T. Moraes, Eric A. Schon, Salvatore DiMauro, Armand F. Miranda

Research output: Contribution to journalArticle

75 Scopus citations

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 <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.

Original languageEnglish (US)
Pages (from-to)765-771
Number of pages7
JournalBiochemical and biophysical research communications
Volume160
Issue number2
DOIs
StatePublished - Apr 28 1989
Externally publishedYes

ASJC Scopus subject areas

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology

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