BSE Case Associated with Prion Protein Gene Mutation
2008

Novel Bovine Prion Protein Gene Mutation Linked to BSE

Sample size: 1 publication Evidence: moderate

Author Information

Author(s): Richt Jürgen A., Hall S. Mark

Primary Institution: National Animal Disease Center, United States Department of Agriculture

Hypothesis

The bovine Prnp E211K mutation most likely has caused BSE in the approximately 10-year-old cow carrying the E221K mutation.

Conclusion

This study identifies a novel mutation in the bovine prion protein gene associated with a confirmed case of BSE.

Supporting Evidence

  • The E211K mutation is identical to a mutation found in humans with genetic CJD.
  • The prevalence of the E211K variant in cattle is extremely low, less than 1 in 2000.
  • This is the first report of a confirmed case of BSE with a potential pathogenic mutation within the bovine Prnp gene.

Takeaway

Scientists found a new change in the genes of a cow that got a disease called BSE, which might help explain how this disease happens.

Methodology

The study involved genetic sequencing of the prion protein gene from a BSE-positive cow and various confirmatory tests for BSE.

Limitations

The functional significance of the E211K mutation remains unknown, and more data are required to support the hypotheses regarding the origin of BSE.

Participant Demographics

The study focused on a single approximately 10-year-old red crossbred beef cow from Alabama.

Digital Object Identifier (DOI)

10.1371/journal.ppat.1000156

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