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朊病毒蛋白E219K多态性:从神野血型的发现到人类朊病毒病的干预措施

Prion protein E219K polymorphism: from the discovery of the KANNO blood group to interventions for human prion disease.

作者信息

Wang Si-Si, Meng Zhao-Li, Zhang Yi-Wen, Yan Yi-Shuang, Li Ling-Bo

机构信息

Department of Translational Medicine, The First Hospital of Jilin University, Changchun, China.

Aikang MedTech Co., Ltd., Shenzhen, China.

出版信息

Front Neurol. 2024 Jul 10;15:1392984. doi: 10.3389/fneur.2024.1392984. eCollection 2024.

DOI:10.3389/fneur.2024.1392984
PMID:39050130
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11266091/
Abstract

KANNO is a new human blood group that was recently discovered. The KANNO antigen shares the gene with the prion protein and the prion protein E219K polymorphism determines the presence or absence of the KANNO antigen and the development of anti-KANNO alloantibodies. These alloantibodies specifically react with prion proteins, which serve as substrates for conversion into pathological isoforms in some prion diseases and may serve as effective targets for resisting prion infection. These findings establish a potential link between the KANNO blood group and human prion disease via the prion protein E219K polymorphism. We reviewed the interesting correlation between the human gene's E219K polymorphism and the prion proteins it expresses, as well as human red blood cell antigens. Based on the immune serological principles of human blood cells, the prion protein E219K polymorphism may serve as a foundation for earlier molecular diagnosis and future drug development for prion diseases.

摘要

卡诺(KANNO)是最近发现的一种新的人类血型。卡诺抗原与朊病毒蛋白共享基因,朊病毒蛋白E219K多态性决定了卡诺抗原的存在与否以及抗卡诺同种抗体的产生。这些同种抗体与朊病毒蛋白特异性反应,在某些朊病毒疾病中,朊病毒蛋白作为转化为病理异构体的底物,可能成为抵抗朊病毒感染的有效靶点。这些发现通过朊病毒蛋白E219K多态性在卡诺血型与人类朊病毒疾病之间建立了潜在联系。我们综述了人类基因E219K多态性与其表达的朊病毒蛋白以及人类红细胞抗原之间的有趣关联。基于人类血细胞的免疫血清学原理,朊病毒蛋白E219K多态性可能为朊病毒疾病的早期分子诊断和未来药物开发奠定基础。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/44f4/11266091/b584a447edec/fneur-15-1392984-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/44f4/11266091/a32d323714d1/fneur-15-1392984-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/44f4/11266091/b584a447edec/fneur-15-1392984-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/44f4/11266091/a32d323714d1/fneur-15-1392984-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/44f4/11266091/b584a447edec/fneur-15-1392984-g002.jpg

相似文献

1
Prion protein E219K polymorphism: from the discovery of the KANNO blood group to interventions for human prion disease.朊病毒蛋白E219K多态性:从神野血型的发现到人类朊病毒病的干预措施
Front Neurol. 2024 Jul 10;15:1392984. doi: 10.3389/fneur.2024.1392984. eCollection 2024.
2
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Human prion protein (PrP) 219K is converted to PrPSc but shows heterozygous inhibition in variant Creutzfeldt-Jakob disease infection.人类朊病毒蛋白(PrP)219K可转化为PrPSc,但在变异型克雅氏病感染中表现出杂合抑制作用。
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Anti-KANNO: a novel alloantibody against a red cell antigen of high frequency.抗-KANNO:一种针对高频红细胞抗原的新型同种抗体。
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Structural basis for the protective effect of the human prion protein carrying the dominant-negative E219K polymorphism.携带显性负效 E219K 多态性的人朊蛋白的保护作用的结构基础。
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Molecular dynamics study of the dominant-negative E219K polymorphism in human prion protein.人类朊病毒蛋白中显性负性E219K多态性的分子动力学研究
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Heterozygosity at polymorphic codon 219 in variant creutzfeldt-jakob disease.变异型克雅氏病中多态密码子219处的杂合性。
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本文引用的文献

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The Smallest Infectious Substructure Encoding the Prion Strain Structural Determinant Revealed by Spontaneous Dissociation of Misfolded Prion Protein Assemblies.揭示朊病毒株结构决定因素的最小传染性亚结构,通过错误折叠朊病毒蛋白组装体的自发解离来揭示。
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Cryo-EM structure of disease-related prion fibrils provides insights into seeding barriers.疾病相关朊病毒纤维的冷冻电镜结构为研究引发障碍提供了线索。
Nat Struct Mol Biol. 2022 Oct;29(10):962-965. doi: 10.1038/s41594-022-00833-4. Epub 2022 Sep 12.
7
Cryo-EM structure of anchorless RML prion reveals variations in shared motifs between distinct strains.无锚定 RML 朊病毒的低温电子显微镜结构揭示了不同株之间共享基序的变化。
Nat Commun. 2022 Jul 13;13(1):4005. doi: 10.1038/s41467-022-30458-6.
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2.7 Å cryo-EM structure of ex vivo RML prion fibrils.2.7 Å 冷冻电镜结构的 RML 朊病毒纤维。
Nat Commun. 2022 Jul 13;13(1):4004. doi: 10.1038/s41467-022-30457-7.
9
Detecting early stage structural changes in wild type, pathogenic and non-pathogenic prion variants using Markov state model.使用马尔可夫状态模型检测野生型、致病性和非致病性朊病毒变体的早期结构变化。
RSC Adv. 2019 May 9;9(25):14567-14579. doi: 10.1039/c9ra01507h. eCollection 2019 May 7.
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Methionine homozygosity for PRNP polymorphism and susceptibility to human prion diseases.蛋氨酸纯合子对于 PRNP 多态性和人类朊病毒病易感性的影响。
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