title: Immunocytological and histochemical correlation in Kearns-Sayre syndrome with mtDNA deletion and partial cytochrome c oxidase deficiency in skeletal muscle.
abstract: We report histochemical, immunocytochemical, biochemical and molecular studies of skeletal muscle from a 23-year-old man with Kearns-Sayre syndrome. Southern blot analysis revealed a 4.7 kb heteroplasmic deletion of the mitochondrial DNA mapping within genes coding for subunits of complexes I, IV and V of the respiratory chain and for tRNA. Cytochrome c oxidase activity was decreased by 30% in isolated muscle mitochondria, without alteration of the Km. Histochemical and immunocytochemical correlation studies for cytochrome c oxidase revealed a lack of activity in 34% of individual muscle fibers including all the typical ragged-red fibers and a low percentage of immunodeficient fibers.
authors.affiliation: Développement, Pathologie, Régénération du Système Neuromusculaire, INSERM U, Paris, France.
authors.forename: N B
authors.initials: NB
authors.lastname: Romero
authors.forename: P
authors.initials: P
authors.lastname: Lestienne
authors.forename: C
authors.initials: C
authors.lastname: Marsac
authors.forename: M
authors.initials: M
authors.lastname: Paturneau-Jouas
authors.forename: I
authors.initials: I
authors.lastname: Nelson
authors.forename: D
authors.initials: D
authors.lastname: François
authors.forename: B
authors.initials: B
authors.lastname: Eymard
authors.forename: M
authors.initials: M
authors.lastname: Fardeau
mesh_terms: D000328:Adult; D030401:Cytochrome-c Oxidase Deficiency; D004272:DNA, Mitochondrial / Q000378:metabolism*; D006801:Humans; D007150:Immunohistochemistry; D007625:Kearns-Sayre Syndrome / Q000378:metabolism* / Q000473:pathology; D008297:Male; D009132:Muscles / Q000378:metabolism* / Q000473:pathology; D009886:Ophthalmoplegia / Q000378:metabolism*
chemical_list: D004272:DNA, Mitochondrial