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ARS Home » Midwest Area » Ames, Iowa » National Animal Disease Center » Virus and Prion Research » Research » Publications at this Location » Publication #213330
Title: BSE case associated with prion protein gene mutation

Author
item Richt, Juergen
item HALL, S. MARK - APHIS, VS, NVSL, AMES, IA

Submitted to: PLoS Pathogens
Publication Type: Peer Reviewed Journal
Publication Acceptance Date: 8/15/2008
Publication Date: 9/12/2008
Citation: Richt, J.A., Hall, S.M. 2008. BSE case associated with prion protein gene mutation. PLoS Pathogens. 4(9):e1000156. Available: http://www.plospathogens.org/article/info:doi/10.1371/journal.ppat.1000156.

Interpretive Summary: Bovine spongiform encephalopathy (BSE), also known as "mad cow disease," is a transmissible spongiform encephalopathy (TSE) of cattle, first detected in 1986 in the United Kingdom and subsequently in other countries. Here we report an unusual BSE case associated with a novel mutation (E211K) within the prion protein gene. This finding offers a basis to the hypothesis that BSE could have originated from a previously undetected genetic cattle TSE and the possibility to use genetic testing of cattle as an additional BSE control measure, which would benefit the cattle industry and consumers.

Technical Abstract: Bovine spongiform encephalopathy (BSE) is a transmissible spongiform encephalopathy (TSE) of cattle and was first detected in 1986 in the United Kingdom. It is the most likely cause of variant Creutzfeldt-Jakob disease (CJD) in humans. The origin of BSE remains an enigma. Here we report an H-type BSE case associated with the novel mutation E211K within the prion protein gene (Prnp). Sequence analysis revealed that the animal with H-type BSE was heterozygous at Prnp nucleotides 631 through 633. An identical pathogenic mutation at the homologous codon position (E200K) in the human Prnp has been described as the most common cause of genetic CJD. This finding represents the first report of a confirmed case of BSE with a potential pathogenic mutation within the bovine Prnp gene. A recent epidemiological study revealed that the K211 allele was not detected in 6062 cattle from commercial beef processing plants and 42 cattle breeds, indicating an extremely low prevalence of the E211K variant (less than 1 in 2000) in cattle.