Prion最新文献

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The role of cellular prion protein in lipid metabolism in the liver. 细胞朊蛋白在肝脏脂质代谢中的作用。
IF 2.3 3区 生物学
Prion Pub Date : 2020-12-01 DOI: 10.1080/19336896.2020.1729074
Amandeep Singh Arora, Saima Zafar, Umair Latif, Franc Llorens, Mihm Sabine, Prateek Kumar, Waqas Tahir, Katrin Thüne, Mohsin Shafiq, Matthias Schmitz, Inga Zerr
{"title":"The role of cellular prion protein in lipid metabolism in the liver.","authors":"Amandeep Singh Arora,&nbsp;Saima Zafar,&nbsp;Umair Latif,&nbsp;Franc Llorens,&nbsp;Mihm Sabine,&nbsp;Prateek Kumar,&nbsp;Waqas Tahir,&nbsp;Katrin Thüne,&nbsp;Mohsin Shafiq,&nbsp;Matthias Schmitz,&nbsp;Inga Zerr","doi":"10.1080/19336896.2020.1729074","DOIUrl":"https://doi.org/10.1080/19336896.2020.1729074","url":null,"abstract":"<p><p>Cellular prion protein (PrPC) is a plasma membrane glycophosphatidylinositol-anchored protein and it is involved in multiple functions, including neuroprotection and oxidative stress. So far, most of the PrPC functional research is done in neuronal tissue or cell lines; the role of PrPC in non-neuronal tissues such as liver is only poorly understood. To characterize the role of PrPC in the liver, a proteomics approach was applied in the liver tissue of PrPC knockout mice. The proteome analysis and biochemical validations showed an excessive fat accumulation in the liver of PrPC knockout mice with a change in mRNA expression of genes linked to lipid metabolism. In addition, the higher Bax to Bcl2 ratio, up-regulation of tgfb1 mRNA expression in PrPC knockout mice liver, further showed the evidences of metabolic disease. Over-expression of PrPC in fatty acid-treated AML12 hepatic cell line caused a reduction in excessive intracellular fat accumulation; shows association of PrPC levels and lipid metabolism. Therefore, based on observation of excessive fat globules in the liver of ageing PrPC knockout mice and the reduction of fat accumulation in AML12 cell line with PrPC over-expression, the role of PrPC in lipid metabolism is described.</p>","PeriodicalId":54585,"journal":{"name":"Prion","volume":" ","pages":"95-108"},"PeriodicalIF":2.3,"publicationDate":"2020-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/19336896.2020.1729074","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37708752","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
Understanding Creutzfeldt-Jackob disease from a viewpoint of amyloidogenic evolvability. 从淀粉样变性进化的角度理解克雅氏病。
IF 2.3 3区 生物学
Prion Pub Date : 2020-12-01 DOI: 10.1080/19336896.2020.1761514
Makoto Hashimoto, Gilbert Ho, Yoshiki Takamatsu, Ryoko Wada, Shuei Sugama, Masaaki Waragai, Eliezer Masliah, Takato Takenouchi
{"title":"Understanding Creutzfeldt-Jackob disease from a viewpoint of amyloidogenic evolvability.","authors":"Makoto Hashimoto,&nbsp;Gilbert Ho,&nbsp;Yoshiki Takamatsu,&nbsp;Ryoko Wada,&nbsp;Shuei Sugama,&nbsp;Masaaki Waragai,&nbsp;Eliezer Masliah,&nbsp;Takato Takenouchi","doi":"10.1080/19336896.2020.1761514","DOIUrl":"https://doi.org/10.1080/19336896.2020.1761514","url":null,"abstract":"<p><p>Creutzfeldt-Jackob disease (CJD), the most common human prion disorder, is frequently accompanied by ageing-associated neurodegenerative conditions, such as Alzheimer's disease and Parkinson's disease. Although cross-seeding of amyloidogenic proteins (APs), including amyloid β and α-synuclein, may be critical in the co-morbidity of neurodegenerative disorders, the direct interaction of APs with prion protein (PrP), the central molecule involved in the pathogenesis of CJD, is unlikely. Currently, the nature of this biological interaction and its significance remain obscure. In this context, the objective of the present study is to discuss such interactions from the perspective of amyloidogenic evolvability, a putative function of APs. Hypothetically, both hereditary- and sporadic CJD might be attributed to the role of PrP in evolvability against multiple stressors, such as physical stresses relevant to concussions, which might be manifest through the antagonistic pleiotropy mechanism in ageing. Furthermore, accumulating evidence suggests that PrP- and other APs evolvability may negatively regulate each other. Provided that increased APs evolvability might be beneficial for acquired CJD in young adults, a dose-reduction of α-synuclein, a natural inhibitor of αS aggregation, might be therapeutically effective in upregulating APs evolvability. Collectively, a better understanding of amyloidogenic evolvability may lead to the development of novel therapies for CJD.</p>","PeriodicalId":54585,"journal":{"name":"Prion","volume":" ","pages":"1-8"},"PeriodicalIF":2.3,"publicationDate":"2020-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/19336896.2020.1761514","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37907238","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: 4
Discovery of a multipotent chaperone, 1-(2,6-Difluorobenzylamino)-3-(1,2,3,4-tetrahydrocarbazol-9-yl)-propan-2-ol with the inhibitory effects on the proliferation of prion, cancer as well as influenza virus. 多能伴侣1-(2,6-二氟氨基苄)-3-(1,2,3,4-四氢咔唑-9-基)-丙二醇对朊病毒、癌症和流感病毒增殖的抑制作用的发现。
IF 2.3 3区 生物学
Prion Pub Date : 2020-12-01 DOI: 10.1080/19336896.2020.1714372
Satoshi Yamashita, Ryo Honda, Mayuko Fukuoka, Tsutomu Kimura, Junji Hosokawa-Muto, Kazuo Kuwata
{"title":"Discovery of a multipotent chaperone, 1-(2,6-Difluorobenzylamino)-3-(1,2,3,4-tetrahydrocarbazol-9-yl)-propan-2-ol with the inhibitory effects on the proliferation of prion, cancer as well as influenza virus.","authors":"Satoshi Yamashita,&nbsp;Ryo Honda,&nbsp;Mayuko Fukuoka,&nbsp;Tsutomu Kimura,&nbsp;Junji Hosokawa-Muto,&nbsp;Kazuo Kuwata","doi":"10.1080/19336896.2020.1714372","DOIUrl":"https://doi.org/10.1080/19336896.2020.1714372","url":null,"abstract":"<p><p>We previously discovered three carbazole derivatives, GJP14 (1-piperidinylmethyl-2-(1-oxo-6-methyl-1,2,3,4-tetrahydrocarbazol-9-yl)-ethan-1-ol) with anti-prion activity, GJC29 (benzylamino-3-(1,2,3,4-tetrahydrocarbazol-9-yl)-propan-2-ol) with anti-cancer activity, and THC19 (1-piperidinylmethyl-2-(1,2,3,4-tetrahydrocarnazol-9-yl)-ethan-1-ol) with anti-influenza virus activity. During optimization of GJP14 for the anti-prion activity, we discovered a compound, 1-(2,6-difluorobenzylamino)-3-(1,2,3,4-tetrahydrocarbazol-9-yl)-propan-2-ol, termed 5Y, had the most strong anti-prion activity among a series of newly synthesized derivatives. Intriguingly, we noticed that 5Y had also the most strong anti-colon cancer as well as the anti-influenza virus activities among derivatives. No significant toxicity of 5Y was observed. These results demonstrate that 5Y is a multipotent lead compound with unusually wide spectrum, and may be applicable to therapeutics targeting multiple diseases.<b>Abbreviations:</b> MoPrP: mouse prion protein of amino acid residues of 23-231; PrP<sup>C</sup>: cellular form of prion protein; PrP<sup>Sc</sup>: scrapie form of prion protein.</p>","PeriodicalId":54585,"journal":{"name":"Prion","volume":" ","pages":"42-46"},"PeriodicalIF":2.3,"publicationDate":"2020-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/19336896.2020.1714372","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37570806","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: 2
Geographic variation in the PRNP gene and its promoter, and their relationship to chronic wasting disease in North American deer. 北美鹿PRNP基因及其启动子的地理变异及其与慢性消耗性疾病的关系
IF 2.3 3区 生物学
Prion Pub Date : 2020-12-01 DOI: 10.1080/19336896.2020.1796250
Robert M Zink, Nadje Najar, Hernán Vázquez-Miranda, Brittaney L Buchanan, Duan Loy, Bruce W Brodersen
{"title":"Geographic variation in the PRNP gene and its promoter, and their relationship to chronic wasting disease in North American deer.","authors":"Robert M Zink,&nbsp;Nadje Najar,&nbsp;Hernán Vázquez-Miranda,&nbsp;Brittaney L Buchanan,&nbsp;Duan Loy,&nbsp;Bruce W Brodersen","doi":"10.1080/19336896.2020.1796250","DOIUrl":"https://doi.org/10.1080/19336896.2020.1796250","url":null,"abstract":"<p><p>PRNP genotypes, number of octarepeats (PHGGGWGQ) and indels in the PRNP promoter can influence the progression of prion disease in mammals. We found no relationship between presence of promoter indels in white-tailed deer and mule deer from Nebraska and CWD presence. White-tailed deer with the 95 H allele and G20D mule deer were more likely to be CWD-free, but unlike other studies white-tailed deer with the 96S allele(s) were equally likely to be CWD-free. We provide the first information on PRNP genotypes and indels in the promoter for Key deer (all homozygous 96SS) and Coues deer (lacked 95 H and 96S alleles, but possessed a uniquely high frequency of 103 T). All deer surveyed were homozygous for three tandem octarepeats.</p>","PeriodicalId":54585,"journal":{"name":"Prion","volume":" ","pages":"185-192"},"PeriodicalIF":2.3,"publicationDate":"2020-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/19336896.2020.1796250","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38197135","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: 9
Age structuring and spatial heterogeneity in prion protein gene (PRNP) polymorphism in white-tailed deer. 白尾鹿朊病毒蛋白基因(PRNP)多态性的年龄结构及空间异质性
IF 2.3 3区 生物学
Prion Pub Date : 2020-12-01 DOI: 10.1080/19336896.2020.1832947
Tyler K Chafin, Marlis R Douglas, Bradley T Martin, Zachery D Zbinden, Christopher R Middaugh, Jennifer R Ballard, M Cory Gray, Don White, Michael E Douglas
{"title":"Age structuring and spatial heterogeneity in prion protein gene (<i>PRNP</i>) polymorphism in white-tailed deer.","authors":"Tyler K Chafin,&nbsp;Marlis R Douglas,&nbsp;Bradley T Martin,&nbsp;Zachery D Zbinden,&nbsp;Christopher R Middaugh,&nbsp;Jennifer R Ballard,&nbsp;M Cory Gray,&nbsp;Don White,&nbsp;Michael E Douglas","doi":"10.1080/19336896.2020.1832947","DOIUrl":"https://doi.org/10.1080/19336896.2020.1832947","url":null,"abstract":"<p><p>Chronic-wasting disease (CWD) is a prion-derived fatal neurodegenerative disease that has affected wild cervid populations on a global scale. Susceptibility has been linked unambiguously to several amino acid variants within the prion protein gene (<i>PRNP</i>). Quantifying their distribution across landscapes can provide critical information for agencies attempting to adaptively manage CWD. Here we attempt to further define management implications of <i>PRNP</i> polymorphism by quantifying the contemporary geographic distribution (i.e., phylogeography) of <i>PRNP</i> variants in hunter-harvested white-tailed deer (WTD; <i>Odocoileus virginianus</i>, N = 1433) distributed across Arkansas (USA), including a focal spot for CWD since detection of the disease in February 2016. Of these, <i>PRNP</i> variants associated with the well-characterized 96S non-synonymous substitution showed a significant increase in relative frequency among older CWD-positive cohorts. We interpreted this pattern as reflective of a longer life expectancy for 96S genotypes in a CWD-endemic region, suggesting either decreased probabilities of infection or reduced disease progression. Other variants showing statistical signatures of potential increased susceptibility, however, seemingly reflect an artefact of population structure. We also showed marked heterogeneity across the landscape in the prevalence of 'reduced susceptibility' genotypes. This may indicate, in turn, that differences in disease susceptibility among WTD in Arkansas are an innate, population-level characteristic that is detectable through phylogeographic analysis.</p>","PeriodicalId":54585,"journal":{"name":"Prion","volume":" ","pages":"238-248"},"PeriodicalIF":2.3,"publicationDate":"2020-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/19336896.2020.1832947","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38512879","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: 12
Focal sharp waves are a specific early-stage marker of the MM2-cortical form of sporadic Creutzfeldt-Jakob disease. 局灶尖波是散发性克雅氏病mm2 -皮质形式的特异性早期标志物。
IF 2.3 3区 生物学
Prion Pub Date : 2020-12-01 DOI: 10.1080/19336896.2020.1803516
Taiki Matsubayashi, Miho Akaza, Yuichi Hayashi, Tsuyoshi Hamaguchi, Masahito Yamada, Takayoshi Shimohata, Takanori Yokota, Nobuo Sanjo
{"title":"Focal sharp waves are a specific early-stage marker of the MM2-cortical form of sporadic Creutzfeldt-Jakob disease.","authors":"Taiki Matsubayashi,&nbsp;Miho Akaza,&nbsp;Yuichi Hayashi,&nbsp;Tsuyoshi Hamaguchi,&nbsp;Masahito Yamada,&nbsp;Takayoshi Shimohata,&nbsp;Takanori Yokota,&nbsp;Nobuo Sanjo","doi":"10.1080/19336896.2020.1803516","DOIUrl":"https://doi.org/10.1080/19336896.2020.1803516","url":null,"abstract":"<p><p>Periodic sharp wave complexes (PSWCs), identified using electroencephalography, are observed in less than half of patients with the methionine homozygosity type 2 cortical (MM2c) form of sporadic Creutzfeldt-Jakob disease (sCJD), and only at a later stage of the disease. In this study, we identified early and specific markers on the electroencephalograms (EEGs) of patients with MM2c-sCJD. We retrospectively investigated the clinical records, EEGs, and magnetic resonance imaging (MRI) scans of patients diagnosed with sCJD and compared the EEG findings of MM2c-sCJD and MM1/classic sCJD groups. The records of six patients with MM2c-sCJD and eight with MM1/classic sCJD were included. The median ages of onset in the MM2c- and MM1/classic sCJD groups were 75.0 (range, 60-83) and 72.5 (range, 51-74) years, respectively, and the average durations between disease onset and the first EEG were 9.17 (range, 4-15) and 1.88 (range, 1-4) months, respectively. Focal sharp waves and/or focal spike-and-wave complexes in the brain regions corresponding with cortical hyperintensities on MRI scans were identified on the EEGs of patients with MM2c-sCJD in the early stages of disease progression. In contrast, EEGs of patients in the early stages of MM1/classic sCJD showed lateralized or generalized diffuse sharp waves and spike-and-wave complexes, which were not limited to cortical hyperintensities identified with MRI scans. Our findings indicate that focal sharp waves and/or focal spike-and-wave complexes on the EEGs of patients in the early phase of MM2c-sCJD are characteristic of the disease, suggesting the possible usefulness of this characteristic for early diagnosis.</p>","PeriodicalId":54585,"journal":{"name":"Prion","volume":" ","pages":"207-213"},"PeriodicalIF":2.3,"publicationDate":"2020-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/19336896.2020.1803516","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38257248","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
Correction. 修正。
IF 2.3 3区 生物学
Prion Pub Date : 2020-12-01 DOI: 10.1080/19336896.2020.1804218
{"title":"Correction.","authors":"","doi":"10.1080/19336896.2020.1804218","DOIUrl":"https://doi.org/10.1080/19336896.2020.1804218","url":null,"abstract":"","PeriodicalId":54585,"journal":{"name":"Prion","volume":" ","pages":"206"},"PeriodicalIF":2.3,"publicationDate":"2020-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/19336896.2020.1804218","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38277655","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
Chronic wasting disease associated with prion protein gene (PRNP) variation in Norwegian wild reindeer (Rangifer tarandus). 挪威野生驯鹿(Rangifer tarandus)与朊蛋白基因(PRNP)变异相关的慢性消耗性疾病。
IF 2.3 3区 生物学
Prion Pub Date : 2020-12-01 DOI: 10.1080/19336896.2019.1702446
Mariella E Güere, Jørn Våge, Helene Tharaldsen, Sylvie L Benestad, Turid Vikøren, Knut Madslien, Petter Hopp, Christer M Rolandsen, Knut H Røed, Michael A Tranulis
{"title":"Chronic wasting disease associated with prion protein gene (<i>PRNP</i>) variation in Norwegian wild reindeer (<i>Rangifer tarandus</i>).","authors":"Mariella E Güere,&nbsp;Jørn Våge,&nbsp;Helene Tharaldsen,&nbsp;Sylvie L Benestad,&nbsp;Turid Vikøren,&nbsp;Knut Madslien,&nbsp;Petter Hopp,&nbsp;Christer M Rolandsen,&nbsp;Knut H Røed,&nbsp;Michael A Tranulis","doi":"10.1080/19336896.2019.1702446","DOIUrl":"https://doi.org/10.1080/19336896.2019.1702446","url":null,"abstract":"<p><p>The emergence of CWD in Europe in 2016 and the first natural infection in wild reindeer warranted disease management. This led to the testing of 2424 hunted or culled reindeer during 2016-2018, from the infected subpopulation in the Nordfjella mountain range in Southern Norway. To identify any association between <i>PRNP</i> variation and CWD susceptibility, we characterized the open reading frame of the <i>PRNP</i> gene in 19 CWD positive reindeer and in 101 age category- and sex-matched CWD negative controls. Seven variant positions were identified: 6 single nucleotide variants (SNVs) and a 24 base pair (bp) deletion located between nucleotide position 238 and 272, encoding four instead of five octapeptide repeats. With a single exception, all variant positions but one were predicted to be non-synonymous. The synonymous SNV and the deletion are novel in reindeer. Various combinations of the non-synonymous variant positions resulted in the identification of five <i>PRNP</i> alleles (A-E) that structured into 14 genotypes. We identified an increased CWD risk in reindeer carrying two copies of the most common allele, A, coding for serine in position 225 (Ser225) and in those carrying allele A together with the 24 bp deletion.</p>","PeriodicalId":54585,"journal":{"name":"Prion","volume":" ","pages":"1-10"},"PeriodicalIF":2.3,"publicationDate":"2020-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/19336896.2019.1702446","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37470382","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: 25
On the role of the cellular prion protein in the uptake and signaling of pathological aggregates in neurodegenerative diseases. 细胞朊蛋白在神经退行性疾病病理聚集物的摄取和信号传导中的作用。
IF 2.3 3区 生物学
Prion Pub Date : 2020-12-01 DOI: 10.1080/19336896.2020.1854034
Giuseppe Legname, Carlo Scialò
{"title":"On the role of the cellular prion protein in the uptake and signaling of pathological aggregates in neurodegenerative diseases.","authors":"Giuseppe Legname,&nbsp;Carlo Scialò","doi":"10.1080/19336896.2020.1854034","DOIUrl":"https://doi.org/10.1080/19336896.2020.1854034","url":null,"abstract":"<p><p>Neurodegenerative disorders are associated with intra- or extra-cellular deposition of aggregates of misfolded insoluble proteins. These deposits composed of tau, amyloid-β or α-synuclein spread from cell to cell, in a prion-like manner. Novel evidence suggests that the circulating soluble oligomeric species of these misfolded proteins could play a major role in pathology, while insoluble aggregates would represent their protective less toxic counterparts. Recent convincing data support the proposition that the cellular prion protein, PrP<sup>C</sup>, act as a toxicity-inducing receptor for amyloid-β oligomers. As a consequence, several studies focused their investigations to the role played by PrP<sup>C</sup> in binding other protein aggregates, such as tau and α-synuclein, for its possible common role in mediating toxic signalling. The biological relevance of PrP<sup>C</sup> as key ligand and potential mediator of toxicity for multiple proteinaceous aggregated species, prions or PrP<sup>Sc</sup> included, could lead to relevant therapeutic implications. Here we describe the structure of PrP<sup>C</sup> and the proposed interplay with its pathological counterpart PrP<sup>Sc</sup> and then we recapitulate the most recent findings regarding the role of PrP<sup>C</sup> in the interaction with aggregated forms of other neurodegeneration-associated proteins.</p>","PeriodicalId":54585,"journal":{"name":"Prion","volume":" ","pages":"257-270"},"PeriodicalIF":2.3,"publicationDate":"2020-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/19336896.2020.1854034","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38732831","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: 11
Clinicopathological findings of a long-term survivor of V180I genetic Creutzfeldt-Jakob disease. 1例V180I遗传性克雅氏病长期存活者的临床病理分析
IF 2.3 3区 生物学
Prion Pub Date : 2020-12-01 DOI: 10.1080/19336896.2020.1739603
Yuichi Hayashi, Yasushi Iwasaki, Masahiro Waza, Shinei Kato, Akio Akagi, Akio Kimura, Takashi Inuzuka, Katsuya Satoh, Tetsuyuki Kitamoto, Mari Yoshida, Takayoshi Shimohata
{"title":"Clinicopathological findings of a long-term survivor of V180I genetic Creutzfeldt-Jakob disease.","authors":"Yuichi Hayashi,&nbsp;Yasushi Iwasaki,&nbsp;Masahiro Waza,&nbsp;Shinei Kato,&nbsp;Akio Akagi,&nbsp;Akio Kimura,&nbsp;Takashi Inuzuka,&nbsp;Katsuya Satoh,&nbsp;Tetsuyuki Kitamoto,&nbsp;Mari Yoshida,&nbsp;Takayoshi Shimohata","doi":"10.1080/19336896.2020.1739603","DOIUrl":"https://doi.org/10.1080/19336896.2020.1739603","url":null,"abstract":"<p><p>The clinical characteristics of genetic Creutzfeldt-Jakob disease (gCJD) with a V180I mutation in the <i>PRNP</i> gene (V180I gCJD) are unique: elderly-onset, gradual progression, sporadic fashion, and cortical oedematous hyper-intensity on diffusion-weighted MRI (DW-MRI). This phenotype may become a potential target of future clinical therapeutic trials. The average disease duration of V180I gCJD patients is 23-27 months; however, considerably long-term survivors are also reported. The factors influencing survival and the clinicopathological characteristics of long-term survivors remain unknown. Herein, we report clinicopathological findings of a long-term survivor of V180I gCJD. A 78-year old woman was admitted to our hospital due to dementia and left hand tremor approximately 1.5 months after symptom onset. Neurological examination revealed dementia, frontal signs, and left hand tremor at admission. She had no family history of dementia or other neurological disease. DW-MRI revealed cortical oedematous hyper-intensities in the bilateral frontal lobes and the right temporal and parietal lobes. <i>PRNP</i> gene analysis indicated a V180I mutation with methionine homozygosity at codon 129. The symptoms gradually progressed, and she died of aspiration pneumonia 61 months after symptom onset. Neuropathological examination revealed severe cerebral atrophy with moderate to severe gliosis, but the brainstem was well preserved. Various-sized and non-confluent vacuole type spongiform changes were extensively observed in the cerebral cortices. Prion protein (PrP) immunostaining revealed weak and synaptic-type PrP deposits in the cerebral cortices. We consider that long-term tube feeding, and very mild brainstem involvement may be associated with the long-term survival of our V180I gCJD patient.</p>","PeriodicalId":54585,"journal":{"name":"Prion","volume":" ","pages":"109-117"},"PeriodicalIF":2.3,"publicationDate":"2020-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/19336896.2020.1739603","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37742798","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: 12
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