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

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

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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. (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

URL: http://dx.doi.org/10.1016/j.neurobiolaging.2015.07.005

DOI: 10.1016/j.neurobiolaging.2015.07.005

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