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

Neurobiol Aging. 2015 Oct;36(10):2908.e1-3. doi: 10.1016/j.neurobiolaging.2015.07.005. Epub 2015 Jul 10.

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.

Keywords: CJD; GWAS; Mitochondrial; Prion.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cohort Studies
  • DNA, Mitochondrial / genetics*
  • Genetic Association Studies*
  • Genetic Variation / genetics*
  • Humans
  • Prion Diseases / genetics*
  • Risk Factors

Substances

  • DNA, Mitochondrial