title: Different copy numbers of apparently identically deleted mitochondrial DNA in tissues from a patient with Kearns-Sayre syndrome detected by PCR.
abstract: An apparently identical deletion of 4.977 bp in length (position 8,483-13,459) was detectable in the mitochondrial DNA from skeletal muscle, heart muscle, kidney, and liver of a patient with Kearns-Sayre syndrome. The proportion of deleted genome varied from 60% for the skeletal muscle to 15% for heart muscle and kidney, and was below 5% in the liver. The mtDNA heteroplasmy of the liver was only detectable after amplification by PCR. In skeletal and heart muscle histochemical and immunocytochemical findings concerning cytochrome c oxidase were in good correlation with the proportion of deleted mitochondrial DNA.
authors.affiliation: Institut für Klinische Chemie und Forschergruppe Diabetes, Städtisches Krankenhaus München-Schwabing, FRG.
authors.forename: B
authors.initials: B
authors.lastname: Obermaier-Kusser
authors.forename: J
authors.initials: J
authors.lastname: Müller-Höcker
authors.forename: I
authors.initials: I
authors.lastname: Nelson
authors.forename: P
authors.initials: P
authors.lastname: Lestienne
authors.forename: C
authors.initials: C
authors.lastname: Enter
authors.forename: T
authors.initials: T
authors.lastname: Riedele
authors.forename: K D
authors.initials: KD
authors.lastname: Gerbitz
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D015342:DNA Probes; D004272:DNA, Mitochondrial / Q000235:genetics* / Q000378:metabolism; D006327:Heart Block / Q000235:genetics*; D006801:Humans; D007668:Kidney / Q000378:metabolism; D008099:Liver / Q000378:metabolism; D008928:Mitochondria / Q000378:metabolism*; D008969:Molecular Sequence Data; D009132:Muscles / Q000378:metabolism; D009206:Myocardium / Q000378:metabolism; D009886:Ophthalmoplegia / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012162:Retinal Degeneration / Q000235:genetics*; D013577:Syndrome
chemical_list: D015342:DNA Probes; D004272:DNA, Mitochondrial