Canadian 2021 H-type Bovine Spongiform Encephalopathy case associated with a novel E211K polymorphism in prion protein gene

Bovine Spongiform Encephalopathy (BSE) is a fatal neurodegenerative disease in cattle which can be either classical BSE (C-BSE) or atypical BSE (including H-BSE and L-BSE). Here, we report the results of our analyses of an H-BSE case found in Canada in 2021, indicating restriction of the pathological agent (PrP<sup>Sc</sup>) mainly to the central nervous system with no or occasional weak involvement of peripheral tissues. Importantly, a non-synonymous mutation at codon 211 of the <i>PRNP</i> gene was detected and confirmed to be present as a germline mutation. This is the first case of BSE in Canada with a predisposing E211K mutation.

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Publication Details

Journal
Prion
Published
2025-08-04
DOI
https://doi.org/10.1080/19336896.2025.2511933
Primary Topic
Prion Diseases and Protein Misfolding
Type
article
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article

Canadian 2021 H-type Bovine Spongiform Encephalopathy case associated with a novel E211K polymorphism in prion protein gene

Sandor Dudas, Kristina Santiago-Mateo, Yuanmu Fang, Sarah Bogart et al.
Prion
Prion Diseases and Protein Misfolding
article

Canadian 2021 H-type Bovine Spongiform Encephalopathy case associated with a novel E211K polymorphism in prion protein gene

Sandor Dudas, Kristina Santiago-Mateo, Yuanmu Fang, Sarah Bogart, Jianmin Yang, Waqas Tahir, Renee Anderson, Roberta Quaghebeur
article en

Abstract

Bovine Spongiform Encephalopathy (BSE) is a fatal neurodegenerative disease in cattle which can be either classical BSE (C-BSE) or atypical BSE (including H-BSE and L-BSE). Here, we report the results of our analyses of an H-BSE case found in Canada in 2021, indicating restriction of the pathological agent (PrP<sup>Sc</sup>) mainly to the central nervous system with no or occasional weak involvement of peripheral tissues. Importantly, a non-synonymous mutation at codon 211 of the <i>PRNP</i> gene was detected and confirmed to be present as a germline mutation. This is the first case of BSE in Canada with a predisposing E211K mutation.

PrionVol. 19(1)
University of Lethbridge (CA), Canadian Food Inspection Agency (CA), University of Calgary (CA), Canadian Science Centre for Human and Animal Health (CA)
Zero hunger
Openalex Percentile: Top 83%
Prion Diseases and Protein Misfolding
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Canadian 2021 H-type Bovine Spongiform Encephalopathy case associated with a novel E211K polymorphism in prion protein gene — Sandor Dudas, Kristina Santiago-Mateo, et al. · Prion (2025) | TGRS Research Map | TGRS