title: Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome.
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.
authors.affiliation: Department of Genetics and Development, College of Physicians and Surgeons, Columbia University, New York 10032.
authors.forename: C T
authors.initials: CT
authors.lastname: Moraes
authors.forename: E A
authors.initials: EA
authors.lastname: Schon
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
authors.forename: A F
authors.initials: AF
authors.lastname: Miranda
mesh_terms: D002872:Chromosome Deletion; D002999:Clone Cells / Q000032:analysis / Q000473:pathology; D004272:DNA, Mitochondrial / Q000032:analysis* / Q000235:genetics; D003576:Electron Transport Complex IV / Q000235:genetics; D005347:Fibroblasts / Q000032:analysis / Q000201:enzymology / Q000473:pathology*; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D009132:Muscles / Q000032:analysis / Q000201:enzymology / Q000473:pathology*; D009886:Ophthalmoplegia / Q000235:genetics*; D013385:Succinate Dehydrogenase / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial; D013385:Succinate Dehydrogenase; D003576:Electron Transport Complex IV