title: BSE case associated with prion protein gene mutation.
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.
authors.affiliation: National Animal Disease Center, United States Department of Agriculture, Agriculture Research Service, Ames, Iowa, United States of America. jricht@vet.k-state.edu
authors.forename: Jürgen A
authors.initials: JA
authors.lastname: Richt
authors.forename: S Mark
authors.initials: SM
authors.lastname: Hall
mesh_terms: D000407:Alabama; D000818:Animals; D001483:Base Sequence; D002417:Cattle; D007562:Creutzfeldt-Jakob Syndrome / Q000209:etiology; D016643:Encephalopathy, Bovine Spongiform / Q000209:etiology*; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D011328:Prions / Q000235:genetics*; D017385:Sequence Homology
chemical_list: D011328:Prions
references.citation: Emerg Infect Dis. 2006 Dec;12(12):1950-3
references.pmid: 17326950
references.citation: Hum Genet. 2005 Nov;118(2):166-74
references.pmid: 16187142
references.citation: Vaccine. 2007 Jul 26;25(30):5625-30
references.pmid: 17126958
references.citation: PLoS One. 2008 Mar 19;3(3):e1830
references.pmid: 18350166
references.citation: Genome. 2003 Dec;46(6):1005-9
references.pmid: 14663519
references.citation: Lancet. 2005 Sep 3-9;366(9488):856-61
references.pmid: 16139661
references.citation: J Clin Microbiol. 2007 Jun;45(6):1821-9
references.pmid: 17442800
references.citation: Brain Pathol. 1995 Jan;5(1):91-103
references.pmid: 7767494
references.citation: Brain Pathol. 1998 Jul;8(3):499-513
references.pmid: 9669700
references.citation: BMC Vet Res. 2008 Jul 14;4:25
references.pmid: 18625065
references.citation: J Vet Diagn Invest. 2007 Mar;19(2):142-54
references.pmid: 17402608
references.citation: PLoS One. 2008 Aug 13;3(8):e2912
references.pmid: 18698343