BSE Case Associated with Prion Protein Gene Mutation

PLoS Pathogens

Jürgen A. Richt¹  S. Mark Hall² 

[1] National Animal Disease Center, United States Department of Agriculture, Agriculture Research Service, Ames, Iowa, United States of America;National Veterinary Services Laboratories, Pathobiology Laboratory, Animal and Plant Health Inspection Service, United States Department of Agriculture, Ames, Iowa, United States of America

关键词: Bovine spongiform encephalopathy;    Cattle;    Animal prion diseases;    Brainstem;    Bovines;    Sheep;    Creutzfeldt-Jakob disease;    Human genetics;   

DOI  :  10.1371/journal.ppat.1000156

学科分类：生物科学（综合）

来源: Public Library of Science

【 摘 要 】

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.

【 授权许可】

CC BY