Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome.
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.
Moraes
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CT
Department of Genetics and Development, College of Physicians and Surgeons, Columbia University, New York 10032.
Schon
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EA
DiMauro
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S
Miranda
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AF
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
D004272:DNA, Mitochondrial; D013385:Succinate Dehydrogenase; D003576:Electron Transport Complex IV