title: Evidence for intramitochondrial complementation between deleted and normal mitochondrial DNA in some patients with mitochondrial myopathy.
abstract: Twenty-three patients with mitochondrial myopathies and mitochondrial DNA deletions in muscle were studied by means of deletion mapping and sequencing, histochemistry and polarography. Histochemistry showed significantly less focal cytochrome oxidase deficiency relative to number of ragged red fibres when the deletion did not involve reading frames for cytochrome oxidase subunits. Polarography in such patients showed defects exclusively involving complex I, in contrast to the others with larger deletions who generally had more diffuse respiratory chain defects. Analysis of other published histochemical data showed similar findings to our own. It is concluded that translation of a proportion of deleted mitochondrial DNAs occurs in at least some patients with mitochondrial DNA deletions, implying that deleted and normal mitochondrial genomes share transfer RNAs within mitochondria in such cases.
authors.affiliation: University Department of Clinical Neurology, Institute of Neurology, London, U.K.
authors.forename: S R
authors.initials: SR
authors.lastname: Hammans
authors.forename: M G
authors.initials: MG
authors.lastname: Sweeney
authors.forename: I J
authors.initials: IJ
authors.lastname: Holt
authors.forename: J M
authors.initials: JM
authors.lastname: Cooper
authors.forename: A
authors.initials: A
authors.lastname: Toscano
authors.forename: J B
authors.initials: JB
authors.lastname: Clark
authors.forename: J A
authors.initials: JA
authors.lastname: Morgan-Hughes
authors.forename: A E
authors.initials: AE
authors.lastname: Harding
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000378:metabolism*; D004272:DNA, Mitochondrial / Q000378:metabolism*; D003576:Electron Transport Complex IV / Q000378:metabolism; D006651:Histocytochemistry; D006801:Humans; D008931:Mitochondria, Muscle / Q000378:metabolism*; D008969:Molecular Sequence Data; D009135:Muscular Diseases / Q000378:metabolism*; D015183:Restriction Mapping
chemical_list: D004272:DNA, Mitochondrial; D004247:DNA; D003576:Electron Transport Complex IV