title: Mitochondrial ND5 mutations in idiopathic Parkinson's disease.
abstract: Idiopathic Parkinson's disease (PD) is characterized by a systemic loss of activity of complex I (NADH:ubiquinone oxidoreductase), the target enzyme of the parkinsonism producing neurotoxin, MPTP. Cybrid experiments strongly suggest that the loss of complex I activity arises from mitochondrial DNA. We prospectively evaluated low frequency, amino acid changing, heteroplasmic mutations in a narrow region of ND5, a mitochondrial gene encoding a complex I subunit, in brain tissue from PD and controls. The presence or absence of amino acid changing mutations correctly classified 15 of 16 samples. Heteroplasmic mutations in a specific region of ND5 largely segregate PD from controls and may be of major pathogenic importance in idiopathic PD.
authors.affiliation: Department of Neurology, University of Virginia School of Medicine, Charlottesville, VA 22901, USA. dp8m@virginia.edu
authors.forename: W Davis
authors.initials: WD
authors.lastname: Parker
authors.forename: Janice K
authors.initials: JK
authors.lastname: Parks
mesh_terms: D000368:Aged; D001921:Brain / Q000378:metabolism; D042967:Electron Transport Complex I / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008928:Mitochondria / Q000235:genetics* / Q000378:metabolism; D024101:Mitochondrial Proteins; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics* / Q000378:metabolism
chemical_list: D024101:Mitochondrial Proteins; C481838:MT-ND5 protein, human; D042967:Electron Transport Complex I