title: Absence of the mitochondrial A7237T mutation in Parkinson's disease.
abstract: In recent years much has been speculated about a pathogenic role of mitochondrial defects in Parkinson's disease. Ozawa et al. (BBRC 176, 938-946, 1991) have described an A/T transversion at nucleotide 7237 of mitochondrial DNA affecting cytochrome-c-oxidase (complex IV) of the respiratory chain that could contribute to the pathogenesis of PD. Employing PCR based genomic sequencing and restriction enzyme analysis on 19 cases of Lewy-body parkinsonism, we exclude this mutation as a common cause of Parkinson's disease. This demonstrates the need for systematic sequencing of the mitochondrial genome in a large number of histologically verified cases of Parkinson's disease.
authors.affiliation: Molecular Neuropathology Laboratory, Institute of Neuropathology, Ludwig-Maximilians-University, München, Germany.
authors.forename: C B
authors.initials: CB
authors.lastname: Lücking
authors.forename: S
authors.initials: S
authors.lastname: Kösel
authors.forename: P
authors.initials: P
authors.lastname: Mehraein
authors.forename: M B
authors.initials: MB
authors.lastname: Graeber
mesh_terms: D000225:Adenine; D001483:Base Sequence; D017931:DNA Primers; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics*; D003576:Electron Transport Complex IV / Q000096:biosynthesis / Q000235:genetics*; D005625:Frontal Lobe / Q000201:enzymology* / Q000473:pathology; D006801:Humans; D016631:Lewy Bodies / Q000201:enzymology / Q000473:pathology; D008928:Mitochondria / Q000201:enzymology; D008969:Molecular Sequence Data; D010300:Parkinson Disease / Q000201:enzymology / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D013378:Substantia Nigra / Q000201:enzymology* / Q000473:pathology; D013941:Thymine
chemical_list: D017931:DNA Primers; D004272:DNA, Mitochondrial; D003576:Electron Transport Complex IV; D000225:Adenine; D013941:Thymine