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2021年加拿大H型牛海绵状脑病病例与朊病毒蛋白基因中的新型E211K多态性相关。

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

作者信息

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

机构信息

Canadian and WOAH Reference Laboratory for BSE, Canadian Food Inspection Agency, National Centre for Animal Diseases, Lethbridge, Canada.

Department of Biological Sciences, University of Lethbridge, Lethbridge, AB, Canada.

出版信息

Prion. 2025 Dec;19(1):36-49. doi: 10.1080/19336896.2025.2511933. Epub 2025 Aug 4.

DOI:10.1080/19336896.2025.2511933
PMID:40757654
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12323412/
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) 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 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.

摘要

牛海绵状脑病（BSE）是一种牛的致命性神经退行性疾病，可分为经典型BSE（C-BSE）或非典型BSE（包括H-BSE和L-BSE）。在此，我们报告了对2021年在加拿大发现的一例H-BSE病例的分析结果，表明致病因子（PrP）主要局限于中枢神经系统，外周组织无或偶尔有轻微累及。重要的是，在该基因的第211密码子处检测到一个非同义突变，并证实其为种系突变。这是加拿大首例具有易感性E211K突变的BSE病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2554/12323412/e66eeb782634/KPRN_A_2511933_F0004_OC.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2554/12323412/726eb11933e3/KPRN_A_2511933_F0001_OC.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2554/12323412/715f93c043bf/KPRN_A_2511933_F0002_OC.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2554/12323412/c43292136fd9/KPRN_A_2511933_F0003_OC.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2554/12323412/e66eeb782634/KPRN_A_2511933_F0004_OC.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2554/12323412/726eb11933e3/KPRN_A_2511933_F0001_OC.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2554/12323412/715f93c043bf/KPRN_A_2511933_F0002_OC.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2554/12323412/c43292136fd9/KPRN_A_2511933_F0003_OC.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2554/12323412/e66eeb782634/KPRN_A_2511933_F0004_OC.jpg

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本文引用的文献

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Front Vet Sci. 2023 Nov 3;10:1301998. doi: 10.3389/fvets.2023.1301998. eCollection 2023.
2
Discrimination of Classical and Atypical BSE by a Distinct Immunohistochemical PrP Profile.通过独特的免疫组织化学朊蛋白（PrP）图谱鉴别经典型和非典型型牛海绵状脑病
Pathogens. 2023 Feb 20;12(2):353. doi: 10.3390/pathogens12020353.
3
In-depth examination of PrP in Holstein cattle carrying the E211K somatic mutation of the bovine prion protein gene (PRNP).
对携带牛朊病毒蛋白基因（PRNP）E211K体细胞突变的荷斯坦奶牛中的朊病毒蛋白（PrP）进行深入研究。
Transbound Emerg Dis. 2022 Jul;69(4):e356-e361. doi: 10.1111/tbed.14309. Epub 2021 Sep 12.
4
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Food Saf (Tokyo). 2019 Jun 13;7(2):21-47. doi: 10.14252/foodsafetyfscj.2018009. eCollection 2019 Jun.
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