Prion最新文献

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A case of V180I genetic mutation Creutzfeldt Jakob disease (CJD) with delusional misidentification as an initial symptom. 以妄想性误认为首发症状的V180I基因突变克雅氏病1例。
IF 2.3 3区 生物学
Prion Pub Date : 2022-12-01 DOI: 10.1080/19336896.2021.2017701
Tomoyuki Nagata, Shunichiro Shinagawa, Nobuyuki Kobayashi, Kazuhiro Kondo, Masahiro Shigeta
{"title":"A case of V180I genetic mutation Creutzfeldt Jakob disease (CJD) with delusional misidentification as an initial symptom.","authors":"Tomoyuki Nagata,&nbsp;Shunichiro Shinagawa,&nbsp;Nobuyuki Kobayashi,&nbsp;Kazuhiro Kondo,&nbsp;Masahiro Shigeta","doi":"10.1080/19336896.2021.2017701","DOIUrl":"https://doi.org/10.1080/19336896.2021.2017701","url":null,"abstract":"<p><p>An 84-year-old woman who had been diagnosed as having dementia with Lewy body (DLB) upon initial examination exhibited cognitive impairments and person delusional misidentification (DMS): she transiently claimed that her spouse was a stranger. She was re-examined at the age of 89 years; her frequency of speech and activities of daily living had both decreased, leading to verbal communication difficulties complicated by sensory aphasia, and brain diffusion-weighted (DW) magnetic resonance imaging (MRI) showed cortical hyperintensities in some areas of both hemispheres. About 4 months later, the DW high-intensity areas were observed to have expanded into diffuse cortical areas. While the clinical features of Creutzfeldt Jakob disease (CJD) (myoclonus; ataxia; parkinsonism; rapidly progressive cognitive impairments; periodic sharp discharges on electroencephalograms) were not observed, a genetic analysis of the prion protein (<i>PRNP</i>) gene, which was performed because of a family history of dementia, revealed a V180I mutation (heterozygosis: valine/isoleucine) suggesting genetic CJD (g-CJD). Her activity progressively decreased, reaching akinetic mutism about 11 months after the re-examination. Finally, she suffered from severe bedsores and died from aspiration pneumonia at the age of 90 years. The present report describes the first case of person DMS as an initial neuropsychiatric symptom for V180I g-CJD; the typical long-term clinical symptoms of CJD were not observed in this patient. The inclusion of person DMS as an initial clinical symptom and the presence of expansive cortical hyperintensity areas may be useful for clinicians attempting to diagnosis V180I g-CJD in patients with elusive symptoms.</p>","PeriodicalId":54585,"journal":{"name":"Prion","volume":"16 1","pages":"7-13"},"PeriodicalIF":2.3,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757407/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10655288","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Transcriptomic analysis identifies novel potential biomarkers and highlights cilium-related biological processes in the early stages of prion disease in mice. 转录组学分析确定了新的潜在生物标志物,并强调了小鼠朊病毒疾病早期阶段与纤毛相关的生物学过程。
IF 2.3 3区 生物学
Prion Pub Date : 2022-12-01 DOI: 10.1080/19336896.2022.2095186
Yong-Chan Kim, Byung-Hoon Jeong
{"title":"Transcriptomic analysis identifies novel potential biomarkers and highlights cilium-related biological processes in the early stages of prion disease in mice.","authors":"Yong-Chan Kim,&nbsp;Byung-Hoon Jeong","doi":"10.1080/19336896.2022.2095186","DOIUrl":"https://doi.org/10.1080/19336896.2022.2095186","url":null,"abstract":"<p><p>Prion diseases are fatal and irreversible neurodegenerative diseases induced by the pathogenic form of the prion protein (PrP<sup>Sc</sup>), which is converted from the benign form of the prion protein (PrP<sup>C</sup>). These diseases are characterized by an extended asymptomatic incubation period accompanied by continuous conversion of PrP<sup>C</sup> to PrP<sup>Sc</sup>. However, to date, the mechanism governing the conversion to PrP<sup>Sc</sup> in the initial stages of prion disease has not been fully elucidated. We collected transcriptome data from the hippocampus of wild-type mice and prion-infected mice at 8 weeks post injection from the Gene Expression Omnibus and analysed differentially expressed genes and related signalling biological process using bioinformatic tools. We identified a total of 36 differentially expressed genes, including 22 upregulated genes and 14 downregulated genes. In addition, we identified that the cilium-related biological process was enriched in the early stages of prion disease. Furthermore, up- and down-regulated genes were associated with cilium-related cellular components and synapse-related cellular components, respectively. To the best of our knowledge, our study was the first to observe the upregulation of cilium-related genes in the early stages of prion disease.</p>","PeriodicalId":54585,"journal":{"name":"Prion","volume":"16 1","pages":"84-90"},"PeriodicalIF":2.3,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9255203/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10782689","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Preventive pharmacological treatment in subjects at risk for fatal familial insomnia: science and public engagement. 有致死性家族性失眠风险的受试者的预防性药物治疗:科学与公众参与。
IF 2.3 3区 生物学
Prion Pub Date : 2022-12-01 DOI: 10.1080/19336896.2022.2083435
Gianluigi Forloni, Ignazio Roiter, Vladimiro Artuso, Manuel Marcon, Walter Colesso, Elviana Luban, Ugo Lucca, Mauro Tettamanti, Elisabetta Pupillo, Veronica Redaelli, Francesco Mariuzzo, Giulia Boscolo Buleghin, Alice Mariuzzo, Fabrizio Tagliavini, Roberto Chiesa, Anna Ambrosini
{"title":"Preventive pharmacological treatment in subjects at risk for fatal familial insomnia: science and public engagement.","authors":"Gianluigi Forloni,&nbsp;Ignazio Roiter,&nbsp;Vladimiro Artuso,&nbsp;Manuel Marcon,&nbsp;Walter Colesso,&nbsp;Elviana Luban,&nbsp;Ugo Lucca,&nbsp;Mauro Tettamanti,&nbsp;Elisabetta Pupillo,&nbsp;Veronica Redaelli,&nbsp;Francesco Mariuzzo,&nbsp;Giulia Boscolo Buleghin,&nbsp;Alice Mariuzzo,&nbsp;Fabrizio Tagliavini,&nbsp;Roberto Chiesa,&nbsp;Anna Ambrosini","doi":"10.1080/19336896.2022.2083435","DOIUrl":"https://doi.org/10.1080/19336896.2022.2083435","url":null,"abstract":"<p><p>Engaging patients as partners in biomedical research has gradually gained consensus over the last two decades. They provide a different perspective on health priorities and help to improve design and outcomes of clinical studies. This paper describes the relationship established between scientists and members of a large family at genetic risk of very rare lethal disease, fatal familial insomnia (FFI). This interaction led to a clinical trial based on the repurposing of doxycycline - an antibiotic with a known safety profile and optimal blood-brain barrier passage - which in numerous preclinical and clinical studies had given evidence of its potential therapeutic effect in neurodegenerative disorders, including prion diseases like FFI. The design of this trial posed several challenges, which were addressed jointly by the scientists and the FFI family. Potential participants excluded the possibility of being informed of their own FFI genotype; thus, the trial design had to include both carriers of the FFI mutation (10 subjects), and non-carriers (15 subjects), who were given placebo. Periodic clinical controls were performed on both groups by blinded examiners. The lack of surrogate outcome measures of treatment efficacy has required to compare the incidence of the disease in the treated group with a historical dataset during 10 years of observation. The trial is expected to end in 2023. Regardless of the clinical outcome, it will provide worthwhile knowledge on the disease. It also offers an important example of public engagement and collaboration to improve the quality of clinical science.</p>","PeriodicalId":54585,"journal":{"name":"Prion","volume":"16 1","pages":"66-77"},"PeriodicalIF":2.3,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9235883/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10782235","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
18F-FP-CIT PET/CT in a case of probable sporadic Creutzfeldt-Jakob disease with parkinsonism as initial symptom. 18F-FP-CIT PET/CT可能为散发性克雅氏病1例,首发症状为帕金森病。
IF 2.3 3区 生物学
Prion Pub Date : 2022-12-01 DOI: 10.1080/19336896.2022.2093078
Songhan Tang, Xiaofeng Dou, Ying Zhang
{"title":"18F-FP-CIT PET/CT in a case of probable sporadic Creutzfeldt-Jakob disease with parkinsonism as initial symptom.","authors":"Songhan Tang,&nbsp;Xiaofeng Dou,&nbsp;Ying Zhang","doi":"10.1080/19336896.2022.2093078","DOIUrl":"https://doi.org/10.1080/19336896.2022.2093078","url":null,"abstract":"<p><p>Creutzfeldt-Jakob disease (CJD) is a low-prevalence, fatal neurodegenerative disease. Parkinsonism as first symptom of CJD is rare. We present a case manifesting difficulty falling asleep as unspecific prodromal symptom and parkinsonism as initial symptom. The patient received positron emission tomography/computed tomography (PET/CT) of dopamine transporter (DAT) using 18 F-FP-CIT. The DAT-scan demonstrated presynaptic dopaminergic deficit in bilateral posterior putamen, which supports the hypothesis of nigrostriatal pathway dysfunction in CJD.</p>","PeriodicalId":54585,"journal":{"name":"Prion","volume":"16 1","pages":"91-94"},"PeriodicalIF":2.3,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/df/89/KPRN_16_2093078.PMC9272837.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10416973","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Prion 2022 Conference abstracts: pushing the boundaries Prion 2022会议摘要:突破界限
IF 2.3 3区 生物学
Prion Pub Date : 2022-09-11 DOI: 10.1080/19336896.2022.2091286
Inga Zerr
{"title":"Prion 2022 Conference abstracts: pushing the boundaries","authors":"Inga Zerr","doi":"10.1080/19336896.2022.2091286","DOIUrl":"https://doi.org/10.1080/19336896.2022.2091286","url":null,"abstract":"","PeriodicalId":54585,"journal":{"name":"Prion","volume":"16 1","pages":"95 - 253"},"PeriodicalIF":2.3,"publicationDate":"2022-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41472096","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Cellular prion protein distribution in the vomeronasal organ, parotid, and scent glands of white-tailed deer and mule deer 细胞朊病毒蛋白在白尾鹿和骡鹿犁鼻器官、腮腺和气味腺中的分布
IF 2.3 3区 生物学
Prion Pub Date : 2022-05-29 DOI: 10.1080/19336896.2022.2079888
A. Ness, Aradhana Jacob, Kelsey Saboraki, Alicia Otero, Danielle Gushue, Diana Martinez Moreno, Melanie de Peña, Xinli Tang, J. Aiken, Susan Lingle, Debbie McKenzie
{"title":"Cellular prion protein distribution in the vomeronasal organ, parotid, and scent glands of white-tailed deer and mule deer","authors":"A. Ness, Aradhana Jacob, Kelsey Saboraki, Alicia Otero, Danielle Gushue, Diana Martinez Moreno, Melanie de Peña, Xinli Tang, J. Aiken, Susan Lingle, Debbie McKenzie","doi":"10.1080/19336896.2022.2079888","DOIUrl":"https://doi.org/10.1080/19336896.2022.2079888","url":null,"abstract":"ABSTRACT Chronic wasting disease (CWD) is a contagious and fatal transmissible spongiform encephalopathy affecting species of the cervidae family. CWD has an expanding geographic range and complex, poorly understood transmission mechanics. CWD is disproportionately prevalent in wild male mule deer and male white-tailed deer. Sex and species influences on CWD prevalence have been hypothesized to be related to animal behaviours that involve deer facial and body exocrine glands. Understanding CWD transmission potential requires a foundational knowledge of the cellular prion protein (PrPC) in glands associated with cervid behaviours. In this study, we characterized the presence and distribution of PrPC in six integumentary and two non-integumentary tissues of hunter-harvested mule deer (Odocoileus hemionus) and white-tailed deer (O. virginianus). We report that white-tailed deer expressed significantly more PrPC than their mule deer in the parotid, metatarsal, and interdigital glands. Females expressed more PrPC than males in the forehead and preorbital glands. The distribution of PrPC within the integumentary exocrine glands of the face and legs were localized to glandular cells, hair follicles, epidermis, and immune cell infiltrates. All tissues examined expressed sufficient quantities of PrPC to serve as possible sites of prion initial infection, propagation, and shedding.","PeriodicalId":54585,"journal":{"name":"Prion","volume":"16 1","pages":"40 - 57"},"PeriodicalIF":2.3,"publicationDate":"2022-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44287081","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 4
The expanding scope of amyloid signalling. 淀粉样蛋白信号传导范围的扩大。
IF 2.3 3区 生物学
Prion Pub Date : 2021-12-01 DOI: 10.1080/19336896.2021.1874791
Asen Daskalov, Sven J Saupe
{"title":"The expanding scope of amyloid signalling.","authors":"Asen Daskalov,&nbsp;Sven J Saupe","doi":"10.1080/19336896.2021.1874791","DOIUrl":"https://doi.org/10.1080/19336896.2021.1874791","url":null,"abstract":"<p><p>Formation of higher-order supramolecular complexes has emerged as a common principle underlying activity of a number of immune and regulated cell-death signalling pathways in animals, plants and fungi. Some of these signalosomes employ functional amyloid motifs in their assembly process. The description of such systems in fungi finds its origin in earlier studies on a fungal prion termed [Het-s], originally identified as a non-Mendelian cytoplasmic infectious element. Janine Beisson has been a key contributor to such early studies. Recent work on this and related systems offers a more integrated view framing this prion in a broader picture including related signalling systems described in animals. We propose here an auto-commentary centred on three recent studies on amyloid signalling in microbes. Collectively, these studies increase our understanding of fold conservation in functional amyloids and the structural basis of seeding, highlight the relation of fungal amyloid motifs to mammalian RHIM (RIP homotypic interaction motif) and expand the concept of Nod-like receptor-based amyloid signalosomes to the prokaryote reign.</p>","PeriodicalId":54585,"journal":{"name":"Prion","volume":"15 1","pages":"21-28"},"PeriodicalIF":2.3,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/19336896.2021.1874791","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25358046","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Exploration of genetic factors resulting in abnormal disease in cattle experimentally challenged with bovine spongiform encephalopathy. 探索导致牛海绵状脑病实验挑战牛异常疾病的遗传因素。
IF 2.3 3区 生物学
Prion Pub Date : 2021-12-01 DOI: 10.1080/19336896.2020.1869495
Sandor Dudas, Renee Anderson, Antanas Staskevicus, Gordon Mitchell, James C Cross, Stefanie Czub
{"title":"Exploration of genetic factors resulting in abnormal disease in cattle experimentally challenged with bovine spongiform encephalopathy.","authors":"Sandor Dudas,&nbsp;Renee Anderson,&nbsp;Antanas Staskevicus,&nbsp;Gordon Mitchell,&nbsp;James C Cross,&nbsp;Stefanie Czub","doi":"10.1080/19336896.2020.1869495","DOIUrl":"https://doi.org/10.1080/19336896.2020.1869495","url":null,"abstract":"<p><p>Since the discovery of bovine spongiform encephalopathy (BSE), researchers have orally challenged cattle with infected brain material to study various aspects of disease pathogenesis. Unlike most other pathogens, oral BSE challenge does not always result in the expected clinical presentation and pathology. In a recent study, steers were challenged orally with BSE and all developed clinical signs and were sacrificed and tested. However, despite a similar incubation and clinical presentation, one of the steers did not have detectable PrP<sup>Sc</sup> in its brain. Samples from this animal were analysed for genetic differences as well as for the presence of in vitro PrP<sup>Sc</sup> seeding activity or infectivity to determine the BSE status of this animal and the potential reasons that it was different. Seeding activity was detected in the brainstem of the abnormal steer but it was approximately one million times less than that found in the normal BSE positive steers. Intra-cranial challenge of bovinized transgenic mice resulted in no transmission of disease. The abnormal steer had different genetic sequences in non-coding regions of the PRNP gene but detection of similar genotypes in Canadian BSE field cases, that showed the expected brain pathology, suggested these differences may not be the primary cause of the abnormal result. Breed composition analysis showed a higher Hereford content in the abnormal steer as well as in two Canadian atypical BSE field cases and several additional abnormal experimental animals. This study could point towards a possible impact of breed composition on BSE pathogenesis.</p>","PeriodicalId":54585,"journal":{"name":"Prion","volume":"15 1","pages":"1-11"},"PeriodicalIF":2.3,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/19336896.2020.1869495","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38780289","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Decoding the role of coiled-coil motifs in human prion-like proteins. 解码盘绕盘绕基序在人类朊病毒样蛋白中的作用。
IF 2.3 3区 生物学
Prion Pub Date : 2021-12-01 DOI: 10.1080/19336896.2021.1961569
Molood Behbahanipour, Javier García-Pardo, Salvador Ventura
{"title":"Decoding the role of coiled-coil motifs in human prion-like proteins.","authors":"Molood Behbahanipour,&nbsp;Javier García-Pardo,&nbsp;Salvador Ventura","doi":"10.1080/19336896.2021.1961569","DOIUrl":"10.1080/19336896.2021.1961569","url":null,"abstract":"<p><p>Prions are self-propagating proteins that cause fatal neurodegenerative diseases in humans. However, increasing evidence suggests that eukaryotic cells exploit prion conformational conversion for functional purposes. A recent study delineated a group of twenty prion-like proteins in humans, characterized by the presence of low-complexity glutamine-rich sequences with overlapping coiled-coil (CCs) motifs. This is the case of Mediator complex subunit 15 (MED15), which is overexpressed in a wide range of human cancers. Biophysical studies demonstrated that the prion-like domain (PrLD) of MED15 forms homodimers in solution, sustained by CCs interactions. Furthermore, the same coiled-coil (CC) region plays a crucial role in the PrLD structural transition to a transmissible β-sheet amyloid state. In this review, we discuss the role of CCs motifs and their contribution to amyloid transitions in human prion-like domains (PrLDs), while providing a comprehensive overview of six predicted human prion-like proteins involved in transcription, gene expression, or DNA damage response and associated with human disease, whose PrLDs contain or overlap with CCs sequences. Finally, we try to rationalize how these molecular signatures might relate to both their function and involvement in disease.</p>","PeriodicalId":54585,"journal":{"name":"Prion","volume":"15 1","pages":"143-154"},"PeriodicalIF":2.3,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8386614/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39339203","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Prion protein polymorphisms in Michigan white-tailed deer (Odocoileus virginianus). 密歇根白尾鹿Prion蛋白多态性。
IF 2.3 3区 生物学
Prion Pub Date : 2021-12-01 DOI: 10.1080/19336896.2021.1990628
Caitlin N Ott-Conn, Julie A Blanchong, Wes A Larson
{"title":"Prion protein polymorphisms in Michigan white-tailed deer (<i>Odocoileus virginianus</i>).","authors":"Caitlin N Ott-Conn,&nbsp;Julie A Blanchong,&nbsp;Wes A Larson","doi":"10.1080/19336896.2021.1990628","DOIUrl":"https://doi.org/10.1080/19336896.2021.1990628","url":null,"abstract":"<p><p>Chronic Wasting Disease (CWD), a well-described transmissible spongiform encephalopathy of the <i>Cervidae</i> family, is associated with the aggregation of an abnormal isoform (PrP<sup>CWD</sup>) of the naturally occurring host prion protein (PrP<sup>C</sup>). Variations in the PrP gene (<i>PRNP</i>) have been associated with CWD rate of infection and disease progression. We analysed 568 free-ranging white-tailed deer (<i>Odocoileus virginianus</i>) from 9 CWD-positive Michigan counties for <i>PRNP</i> polymorphisms. Sampling included 185 CWD-positive, 332 CWD non-detected, and an additional 51 CWD non-detected paired to CWD-positives by sex, age, and harvest location. We found 12 polymorphic sites of which 5 were non-synonymous and resulted in a change in amino acid composition. Thirteen haplotypes were predicted, of which 11 have previously been described. Using logistic regression, consistent with other studies, we found haplotypes C (OR = 0.488, 95% CI = 0.321-0.730, P < 0.001) and F (OR = 0.122, 95% CI = 0.007-0.612, P < 0.05) and diplotype BC (OR = 0.340, 95% CI = 0.154-0.709, P < 0.01) were less likely to be found in deer infected with CWD. As has also been documented in other studies, the presence of a serine at amino acid 96 was less likely to be found in deer infected with CWD (P < 0.001, OR = 0.360 and 95% CI = 0.227-0.556). Identification of <i>PRNP</i> polymorphisms associated with reduced vulnerability to CWD in Michigan deer and their spatial distribution can help managers design surveillance programmesand identify and prioritize areas for CWD management.</p>","PeriodicalId":54585,"journal":{"name":"Prion","volume":"15 1","pages":"183-190"},"PeriodicalIF":2.3,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8583003/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39869253","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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