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: Gavin Hudson, James Uphill, Holger Hummerich, Janice Blevins, Pierluigi Gambetti, Inga Zerr, John Collinge, Simon Mead, Patrick F Chinnery
• Journal: Neurobiology of aging (Neurobiol Aging) Vol. 36 Issue 10 Pg. 2908.e1-3 (Oct 2015) ISSN: 1558-1497 [Electronic] United States
• PMID: 26239179 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2015 Elsevier Inc. All rights reserved.

Chemical References

• DNA, Mitochondrial

Topics

• Cohort Studies
• DNA, Mitochondrial (genetics)
• Genetic Association Studies
• Genetic Variation (genetics)
• Humans
• Prion Diseases (genetics)
• Risk Factors