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
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Chromosome Deletion
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Clone Cells / analysis
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Clone Cells / pathology
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DNA, Mitochondrial / analysis*
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DNA, Mitochondrial / genetics
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Electron Transport Complex IV / genetics
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Fibroblasts / analysis
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Fibroblasts / enzymology
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Fibroblasts / pathology*
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Humans
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Kearns-Sayre Syndrome / enzymology
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Kearns-Sayre Syndrome / genetics*
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Kearns-Sayre Syndrome / pathology
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Muscles / analysis
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Muscles / enzymology
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Muscles / pathology*
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Ophthalmoplegia / genetics*
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Succinate Dehydrogenase / genetics
Substances
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DNA, Mitochondrial
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Succinate Dehydrogenase
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Electron Transport Complex IV