title: Mitochondrial DNA deletions in oculopharyngeal muscular dystrophy.
abstract: The deletions in the mitochondrial DNA from skeletal muscle samples of two oculopharyngeal muscular dystrophy cases were studied using polymerase chain reaction techniques. The 4977 bp 'common deletion' was present in both specimens, exceeding the corresponding values of similarly aged, healthy controls. In the two samples multiple different mitochondrial DNA deletions, some case-specific and present at quite high, although not pathogenetic levels, were observed. The results suggest that mitochondrial DNA deletions, and the 'common deletion' in particular, might be a sensitive and early marker of a generalized mitochondrial suffering, due to a variety of pathological and physiological causes.
authors.affiliation: Department of Biochemistry and Molecular Biology, University of Bari, Italy.
authors.forename: A M
authors.initials: AM
authors.lastname: Lezza
authors.forename: A
authors.initials: A
authors.lastname: Cormio
authors.forename: P
authors.initials: P
authors.lastname: Gerardi
authors.forename: G
authors.initials: G
authors.lastname: Silvestri
authors.forename: S
authors.initials: S
authors.lastname: Servidei
authors.forename: L
authors.initials: L
authors.lastname: Serlenga
authors.forename: P
authors.initials: P
authors.lastname: Cantatore
authors.forename: M N
authors.initials: MN
authors.lastname: Gadaleta
mesh_terms: D001483:Base Sequence; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000378:metabolism*; D009136:Muscular Dystrophies / Q000235:genetics*; D009801:Oculomotor Muscles; D010609:Pharyngeal Muscles; D016133:Polymerase Chain Reaction; D012016:Reference Values; D017384:Sequence Deletion
chemical_list: D004272:DNA, Mitochondrial