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Article

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

Neurobiology of aging - 1 Oct 2015

Hudson Gavin, Uphill James, Hummerich Holger, Blevins Janice, Gambetti Pierluigi, Zerr Inga, Collinge John, Mead Simon, Chinnery Patrick F

Abstract excerpt

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...

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Identifiers

PMID: 26239179
DOI: 10.1016/j.neurobiolaging.2015.07.005
PMCID: PMC6542657

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Inherited mtDNA variations are not strong risk factors in human prion disease.PMID 26239179Read ↗

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Variants of PLCXD3 are not associated with variant or sporadic Creutzfeldt-Jakob disease in a large international study.Semantic proximity Read ↗

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No evidence for prion protein gene locus multiplication in Creutzfeldt-Jakob disease.Semantic proximity Read ↗

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