加拿大2021例与新型朊蛋白基因E211K多态性相关的h型牛海绵状脑病病例

IF 1.6 3区生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY

Prion Pub Date : 2025-12-01 Epub Date: 2025-08-04 DOI:10.1080/19336896.2025.2511933

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

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引用次数: 0

摘要

牛海绵状脑病（BSE）是一种致命的牛神经退行性疾病，可以是典型的疯牛病（C-BSE）或非典型的疯牛病（包括H-BSE和L-BSE）。在这里，我们报告了我们对2021年在加拿大发现的一例H-BSE病例的分析结果，表明病理因子（PrPSc）主要局限于中枢神经系统，没有或偶尔轻微累及外周组织。重要的是，在PRNP基因密码子211处检测到一个非同义突变，并确认作为种系突变存在。这是加拿大首个易患E211K突变的疯牛病病例。

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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^Sc) 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 PRNP 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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来源期刊

Prion 生物-生化与分子生物学

CiteScore

5.20

自引率

4.30%

发文量

审稿时长

6-12 weeks

期刊介绍： Prion is the first international peer-reviewed open access journal to focus exclusively on protein folding and misfolding, protein assembly disorders, protein-based and structural inheritance. The goal is to foster communication and rapid exchange of information through timely publication of important results using traditional as well as electronic formats. The overriding criteria for publication in Prion are originality, scientific merit and general interest.