Toggle Main Menu Toggle Search

Open Access padlockePrints

Inherited mtDNA variations are not strong risk factors in human prion disease

Lookup NU author(s): Professor Gavin Hudson, Professor Patrick Chinnery


Full text for this publication is not currently held within this repository. Alternative links are provided below where available.


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. (C) 2015 Elsevier Inc. All rights reserved.

Publication metadata

Author(s): Hudson G, Uphill J, Hummerich H, Blevins J, Gambetti P, Zerr I, Collinge J, Mead S, Chinnery PF

Publication type: Article

Publication status: Published

Journal: Neurobiology of Aging

Year: 2015

Volume: 36

Issue: 10

Pages: 2908.e1-2908.e3

Print publication date: 01/10/2015

Online publication date: 10/07/2015

Acceptance date: 04/07/2015

ISSN (print): 0197-4580

ISSN (electronic): 1558-1497

Publisher: Elsevier


DOI: 10.1016/j.neurobiolaging.2015.07.005


Altmetrics provided by Altmetric


Funder referenceFunder name
G0601943Medical Research Council (UK) Centre for Translational Muscle Disease research
Medical Research Council (UK)
National Institute for Health Research (NIHR) Newcastle Biomedical Research Centre at Newcastle Upon Tyne Hospitals NHS Foundation Trust
National Institute for Health Research (NIHR) Newcastle Biomedical Research Centre at Newcastle University
National Institute of Health Research's Biomedical Research Centre at UCLH
096919Z/11/ZWellcome Trust Centre for Mitochondrial Research