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BSE Case Associated with Prion Protein Gene Mutation

Last week, co-authors Jürgen Richt and S. Mark Hall published a groundbreaking article in PLoS Pathogens related to mad cow disease. The authors were both affiliated with the US Department of Agriculture during the completion of their study.

Through DNA sequence analysis, the authors identify a novel mutation in the bovine prion protein gene (Prnp), called E211K, in a cow confirmed with atypical bovine spongiform encephalopathy (BSE). This is the first report of a confirmed case of BSE (mad cow disease) with a potential pathogenic mutation within the bovine Prnp gene. This mutation is identical to the E200K pathogenic mutation in the human Prnp, which has been described as the most common cause of genetic Creutzfeldt-Jakob disease.

Richt notes that the mutation can show up at any time, and therefore cattle herders must be on watch. He further recommends that herders try to breed the mutation out of cattle, in order to guard against future BSE-related cases.

About the paper Richt says, “Our BSE manuscript presents critical information on the origin of BSE and will help public and animal health authorities worldwide to design novel prophylactic strategies against this zoonotic pathogen. Your open-access journal is playing a critical role in the dissemination of this information.”

The paper was covered in Reuters and on ScienceBlogs, where the journal is properly attributed, as well as by CBC News and KBS of South Korea, among others.


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