title: Investigation of the mitochondrial genome in patients with atypical motor neuron disease.
abstract: The molecular aetiology of many patients with motor neuron disease (MND) remains unknown. Recent evidence of mitochondrial dysfunction, in particular the finding of histochemical abnormalities and pathogenic mitochondrial DNA (mtDNA) mutations, has prompted us to investigate further the role of mtDNA abnormalities in a cohort of thirteen patients with atypical MND presentations by whole mitochondrial genome sequencing. No pathogenic mutations were detected suggesting that inherited mtDNA mutations are not a common cause of atypical MND presentations.
authors.affiliation: Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle, Newcastle NE2 4HH, UK.
authors.forename: Catherine
authors.initials: C
authors.lastname: Phoenix
authors.forename: Geoffrey A
authors.initials: GA
authors.lastname: Taylor
authors.forename: Judith
authors.initials: J
authors.lastname: Hartley
authors.forename: Hannah
authors.initials: H
authors.lastname: Nixon
authors.forename: Paul G
authors.initials: PG
authors.lastname: Ince
authors.forename: Pamela J
authors.initials: PJ
authors.lastname: Shaw
authors.forename: Douglass M
authors.initials: DM
authors.lastname: Turnbull
authors.forename: Robert W
authors.initials: RW
authors.lastname: Taylor
mesh_terms: D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D030561:Databases, Nucleic Acid; D005260:Female; D016678:Genome / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D016472:Motor Neuron Disease / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D004272:DNA, Mitochondrial