title: Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy.
abstract: Multiple deletions of mitochondrial DNA (mtDNA) were first identified in patients with mitochondrial encephalomyopathy with a clear mendelian inheritance. We found this genetic alteration in four atypical and sporadic cases of mitochondrial encephalomyopathy, characterized by RRF and partial COX deficiency. One patient was affected by essential hyperCPKemia, 1 by subacute onset flaccid tetraplegia and 2 by parkinsonism. Southern blot and PCR revealed mtDNA multiple deletions in muscle tissue of these patients. These findings indicate that these alterations are not confined to the families with mendelian transmission, but can be present in sporadic cases with heterogeneous phenotypic features.
authors.affiliation: Centro Dino Ferrari, Istituto di Clinica Neurologica, Università di Milano, Italy.
authors.forename: N
authors.initials: N
authors.lastname: Checcarelli
authors.forename: A
authors.initials: A
authors.lastname: Prelle
authors.forename: M
authors.initials: M
authors.lastname: Moggio
authors.forename: G
authors.initials: G
authors.lastname: Comi
authors.forename: N
authors.initials: N
authors.lastname: Bresolin
authors.forename: A
authors.initials: A
authors.lastname: Papadimitriou
authors.forename: G
authors.initials: G
authors.lastname: Fagiolari
authors.forename: A
authors.initials: A
authors.lastname: Bordoni
authors.forename: G
authors.initials: G
authors.lastname: Scarlato
mesh_terms: D000368:Aged; D015139:Blotting, Southern; D002950:Citrate (si)-Synthase / Q000032:analysis; D003402:Creatine Kinase / Q000032:analysis; D030401:Cytochrome-c Oxidase Deficiency; D004272:DNA, Mitochondrial / Q000235:genetics*; D003576:Electron Transport Complex IV / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000201:enzymology; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics* / Q000473:pathology*; D009132:Muscles / Q000378:metabolism / Q000473:pathology; D009245:NADH Dehydrogenase / Q000032:analysis; D009252:NADPH Dehydrogenase / Q000032:analysis; D010300:Parkinson Disease / Q000150:complications; D016133:Polymerase Chain Reaction / Q000379:methods; D011782:Quadriplegia; D017384:Sequence Deletion; D013384:Succinate Cytochrome c Oxidoreductase / Q000032:analysis; D013385:Succinate Dehydrogenase / Q000032:analysis
chemical_list: D004272:DNA, Mitochondrial; D013384:Succinate Cytochrome c Oxidoreductase; D013385:Succinate Dehydrogenase; D009252:NADPH Dehydrogenase; D009245:NADH Dehydrogenase; D003576:Electron Transport Complex IV; D002950:Citrate (si)-Synthase; D003402:Creatine Kinase