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.

SUBMITTER: Hudson G 

PROVIDER: S-EPMC6542657 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature