title: Inherited mtDNA variations are not strong risk factors in human prion disease.
abstract: Aside from variation in the prion protein gene, genetic risk factors for sporadic Creutzfeldt-Jakob disease remain elusive. Given emerging evidence implicating mitochondrial dysfunction in the pathogenesis of the disorders, we studied the role of inherited mitochondrial DNA variation in a 2255 sporadic prion disease cases and 3768 controls. Our analysis indicates that inherited mitochondrial DNA variation does not have a major role in the risk of developing the disorder.
authors.affiliation: Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, UK.
authors.forename: Gavin
authors.initials: G
authors.lastname: Hudson
authors.affiliation: MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK.
authors.forename: James
authors.initials: J
authors.lastname: Uphill
authors.affiliation: MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK.
authors.forename: Holger
authors.initials: H
authors.lastname: Hummerich
authors.affiliation: Department of Pathology, Case Western Reserve University, Cleveland, OH, USA.
authors.forename: Janice
authors.initials: J
authors.lastname: Blevins
authors.affiliation: Department of Pathology, Case Western Reserve University, Cleveland, OH, USA.
authors.forename: Pierluigi
authors.initials: P
authors.lastname: Gambetti
authors.affiliation: Clinical Dementia Center, Department of Neurology, Georg-August University Göttingen, Göttingen, Germany; Center for Neuropathology and Prion Research, Ludwig-Maximilians-University Munich Munich, Germany.
authors.forename: Inga
authors.initials: I
authors.lastname: Zerr
authors.affiliation: MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK.
authors.forename: John
authors.initials: J
authors.lastname: Collinge
authors.affiliation: MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK. Electronic address: s.mead@prion.ucl.ac.uk.
authors.forename: Simon
authors.initials: S
authors.lastname: Mead
authors.affiliation: Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, UK.
authors.forename: Patrick F
authors.initials: PF
authors.lastname: Chinnery
mesh_terms: D015331:Cohort Studies; D004272:DNA, Mitochondrial / Q000235:genetics*; D056726:Genetic Association Studies; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D017096:Prion Diseases / Q000235:genetics*; D012307:Risk Factors
chemical_list: D004272:DNA, Mitochondrial
keywords: CJD; GWAS; Mitochondrial; Prion