title: Detection of mitochondrial defects by laser fluorimetry.
abstract: The mitochondrial function in skeletal muscle biopsies of three patients with chronic progressive external ophthalmoplegia, having deletions of the mitochondrial DNA, was studied by laser-excited fluorescence measurements of NAD(P)H and flavoproteins in saponin-skinned fibers. We detected substantially elevated steady state redox states of the mitochondrial NAD-system in the muscle fibers of these patients. Moreover, the respiratory chain-linked autofluorescence changes in the muscle fibers of these patients were larger in comparison to controls indicating substantial alterations of the mitochondrial content. These results are in line with the presence of elevated numbers of partially respiratory chain inhibited mitochondria in the skeletal muscle of chronic progressive external ophthalmoplegia patients.
authors.affiliation: Klinik für Neurologie, Universitätsklinikum Magdeburg, Germany.
authors.forename: W S
authors.initials: WS
authors.lastname: Kunz
authors.forename: K
authors.initials: K
authors.lastname: Winkler
authors.forename: A V
authors.initials: AV
authors.lastname: Kuznetsov
authors.forename: H
authors.initials: H
authors.lastname: Lins
authors.forename: E
authors.initials: E
authors.lastname: Kirches
authors.forename: C W
authors.initials: CW
authors.lastname: Wallesch
mesh_terms: D000368:Aged; D004272:DNA, Mitochondrial / Q000032:analysis*; D005260:Female; D005470:Fluorometry; D017353:Gene Deletion; D006801:Humans; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000235:genetics / Q000378:metabolism* / Q000648:ultrastructure; D017240:Mitochondrial Myopathies / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure*; D009886:Ophthalmoplegia / Q000235:genetics / Q000473:pathology*
chemical_list: D004272:DNA, Mitochondrial