IF 1.9 3区生物学

Prion Pub Date : 2024-12-01 Epub Date: 2024-03-21 DOI: 10.1080/19336896.2024.2329186

Andrea Bartolomé-Nafría, Javier García-Pardo, Salvador Ventura

{"title":"Mutations in human prion-like domains: pathogenic but not always amyloidogenic.","authors":"Andrea Bartolomé-Nafría, Javier García-Pardo, Salvador Ventura","doi":"10.1080/19336896.2024.2329186","DOIUrl":"10.1080/19336896.2024.2329186","url":null,"abstract":"Heterogeneous nuclear ribonucleoproteins (hnRNPs) are multifunctional proteins with integral roles in RNA metabolism and the regulation of alternative splicing. These proteins typically contain prion-like domains of low complexity (PrLDs or LCDs) that govern their assembly into either functional or pathological amyloid fibrils. To date, over 60 mutations targeting the LCDs of hnRNPs have been identified and associated with a spectrum of neurodegenerative diseases including amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and Alzheimer's disease (AD). The cryo-EM structures of pathological and functional fibrils formed by different hnRNPs have been recently elucidated, including those of hnRNPA1, hnRNPA2, hnRNPDL-2, TDP-43, and FUS. In this review, we discuss the structural features of these amyloid assemblies, placing particular emphasis on scrutinizing the impact of prevalent disease-associated mutations mapping within their LCDs. By performing systematic energy calculations, we reveal a prevailing trend of destabilizing effects induced by these mutations in the amyloid structure, challenging the traditionally assumed correlation between pathogenicity and amyloidogenic propensity. Understanding the molecular basis of this discrepancy might provide insights for developing targeted therapeutic strategies to combat hnRNP-associated diseases.","PeriodicalId":54585,"journal":{"name":"Prion","volume":"18 1","pages":"28-39"},"PeriodicalIF":1.9,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10962614/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140186323","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

A case report of fatal familial insomnia with cerebrospinal fluid leukocytosis during the COVID-19 epidemic and review of the literature. COVID-19 流行期间致命性家族性失眠伴脑脊液白细胞增多的病例报告及文献综述。

IF 1.9 3区生物学

Prion Pub Date : 2024-12-01 Epub Date: 2024-01-16 DOI: 10.1080/19336896.2023.2298520

Zheng Wang, Yueqi Huang, Shuqi Wang, Jiefang Chen, Gesang Meiduo, Man Jin, Xiaoying Zhang

{"title":"A case report of fatal familial insomnia with cerebrospinal fluid leukocytosis during the COVID-19 epidemic and review of the literature.","authors":"Zheng Wang, Yueqi Huang, Shuqi Wang, Jiefang Chen, Gesang Meiduo, Man Jin, Xiaoying Zhang","doi":"10.1080/19336896.2023.2298520","DOIUrl":"10.1080/19336896.2023.2298520","url":null,"abstract":"Fatal familial insomnia (FFI) is a rare autosomal dominant genetic neurodegenerative disease. Generally, FFI patients will develop rapidly progressive dementia, sleep disturbance, autonomic dysfunction, and so on. Cerebrospinal fluid examination of FFI patients normally shows no obvious abnormalities. Here, we report a young male patient who was diagnosed with FFI during the COVID-19 epidemic. Clinical symptoms include psychobehavioral abnormality, cognitive decline, sleep disturbance, and autonomic dysfunction. No abnormalities were found in routine examinations after admission. However, the number of white blood cells in the cerebrospinal fluid increased. Though the patient was treated with anti-infection and immunotherapy, the symptoms were not relieved. A lumbar puncture was performed again, and it was found that the total Tau protein in the cerebrospinal fluid was elevated, and PET results showed that brain metabolism decreased. Finally, a genetic test was used to confirm the diagnosis of FFI. This case suggests that patients with FFI may also have elevated white blood cells in cerebrospinal fluid and timely detection of Tau protein in cerebrospinal fluid is helpful for early identification of FFI. And precise diagnosis relies on genetic testing.","PeriodicalId":54585,"journal":{"name":"Prion","volume":" ","pages":"1-10"},"PeriodicalIF":1.9,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11654706/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139472700","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

Unmet needs of biochemical biomarkers for human prion diseases. 人类朊病毒疾病对生化生物标志物的需求尚未得到满足。

IF 1.9 3区生物学

Prion Pub Date : 2024-12-01 Epub Date: 2024-05-12 DOI: 10.1080/19336896.2024.2349017

Peter Hermann, Inga Zerr

引用次数: 0

Correction. 更正。

IF 1.9 3区生物学

Prion Pub Date : 2024-12-01 Epub Date: 2024-05-30 DOI: 10.1080/19336896.2024.2359752

引用次数: 0

Prion forensics: a multidisciplinary approach to investigate CWD at an illegal deer carcass disposal site. 朊病毒法医学：采用多学科方法调查非法鹿尸处理场的 CWD。

IF 1.9 3区生物学

Prion Pub Date : 2024-12-01 Epub Date: 2024-04-26 DOI: 10.1080/19336896.2024.2343298

Marc D Schwabenlander, Jason C Bartz, Michelle Carstensen, Alberto Fameli, Linda Glaser, Roxanne J Larsen, Manci Li, Rachel L Shoemaker, Gage Rowden, Suzanne Stone, W David Walter, Tiffany M Wolf, Peter A Larsen

引用次数: 0

Genetic assessment of apolipoprotein E polymorphism and PRNP genotypes in rapidly progressive dementias in Pakistan. 巴基斯坦快速进展性痴呆患者载脂蛋白E多态性和PRNP基因型的遗传评估。

IF 1.9 3区生物学

Prion Pub Date : 2024-12-01 Epub Date: 2024-12-09 DOI: 10.1080/19336896.2024.2439598

Urwah Rasheed, Minahil Khalid, Aneeqa Noor, Umar Saeed, Rizwan Uppal, Saima Zafar

{"title":"Genetic assessment of apolipoprotein E polymorphism and PRNP genotypes in rapidly progressive dementias in Pakistan.","authors":"Urwah Rasheed, Minahil Khalid, Aneeqa Noor, Umar Saeed, Rizwan Uppal, Saima Zafar","doi":"10.1080/19336896.2024.2439598","DOIUrl":"10.1080/19336896.2024.2439598","url":null,"abstract":"Rapidly progressive dementias (RPDs) are a type of fatal dementias that cause rapid progression of neuronal dysfunction. This study aimed to assess the prevalence of APOE genotypes (ε2, ε3, ε4) and PRNP mutations (E200K, M129V) in the general population of Pakistan because of their association with RPDs, including Rapidly Progressive Alzheimer's Disease (rpAD) and Creutzfeldt-Jakob Disease (CJD). Blood samples (n = 100) were collected from healthy Pakistani population and the stated mutations were assessed using polymerase chain reaction. In the analysis of the APOE genotype, ε3/ε3 genotype was the most common (95%), followed by ε3/ε4 (5%) and ε2 allele was completely absent. A low frequency of ε4 allele and the absence of a protective ε2 allele is associated with an increased risk of rpAD. In the case of PRNP mutations, the most common genotype was M129-Ε200 (71%) and V129-Ε200 (29%). E200K mutation was completely absent from the given population. It is noteworthy that the MM homozygous genotype was present in 71 samples, VV genotype was present in 29. Homozygosity on codon 129, as observed in most of our samples, has been associated with more efficient production of PrPSc and disease pathology. This study provides preliminary data indicating that rpAD and CJD pose a significant threat to the Pakistani population.","PeriodicalId":54585,"journal":{"name":"Prion","volume":" ","pages":"1-7"},"PeriodicalIF":1.9,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11812391/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142803530","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

Prion 2024 Conference Abstracts. Prion 2024 会议摘要。

IF 1.9 3区生物学

Prion Pub Date : 2024-10-01 Epub Date: 2024-11-28 DOI: 10.1080/19336896.2024.2424058

引用次数: 0

Expression of the cellular prion protein by mast cells in white-tailed deer carotid body, cervical lymph nodes and ganglia. 白尾鹿颈动脉体、颈淋巴结和神经节中肥大细胞对细胞朊病毒蛋白的表达。

IF 2.3 3区生物学

Prion Pub Date : 2024-09-16 DOI: 10.1080/19336896.2024.2402225

Anthony E Kincaid,Nathaniel D Denkers,Erin E McNulty,Caitlyn N Kraft,Jason C Bartz,Candace K Mathiason

引用次数: 0

Novel method for classification of prion diseases by detecting PrPres signal patterns from formalin-fixed paraffin-embedded samples 通过检测福尔马林固定石蜡包埋样本中的 PrPres 信号模式对朊病毒疾病进行分类的新方法

IF 2.3 3区生物学

Prion Pub Date : 2024-04-16 DOI: 10.1080/19336896.2024.2337981

Sachiko Koyama, Kaoru Yagita, Hideomi Hamasaki, Hideko Noguchi, Masahiro Shijo, Kosuke Matsuzono, Kei-Ichiro Takase, Keita Kai, Shin-Ichi Aishima, Kyoko Itoh, Toshiharu Ninomiya, Naokazu Sasagasako, Hiroyuki Honda

引用次数: 0

Expression of the cellular prion protein by mast cells in the human carotid body. 颈动脉肥大细胞表达细胞朊蛋白的研究。

IF 2.3 3区生物学

Prion Pub Date : 2023-12-01 DOI: 10.1080/19336896.2023.2193128

Gregory D Sweetland, Connor Eggleston, Jason C Bartz, Candace K Mathiason, Anthony E Kincaid

{"title":"Expression of the cellular prion protein by mast cells in the human carotid body.","authors":"Gregory D Sweetland, Connor Eggleston, Jason C Bartz, Candace K Mathiason, Anthony E Kincaid","doi":"10.1080/19336896.2023.2193128","DOIUrl":"10.1080/19336896.2023.2193128","url":null,"abstract":"Prion diseases are fatal neurologic disorders that can be transmitted by blood transfusion. The route for neuroinvasion following exposure to infected blood is not known. Carotid bodies (CBs) are specialized chemosensitive structures that detect the concentration of blood gasses and provide feedback for the neural control of respiration. Sensory cells of the CB are highly perfused and densely innervated by nerves that are synaptically connected to the brainstem and thoracic spinal cord, known to be areas of early prion deposition following oral infection. Given their direct exposure to blood and neural connections to central nervous system (CNS) areas involved in prion neuroinvasion, we sought to determine if there were cells in the human CB that express the cellular prion protein (PrPC), a characteristic that would support CBs serving as a route for prion neuroinvasion. We collected CBs from cadaver donor bodies and determined that mast cells located in the carotid bodies express PrPC and that these cells are in close proximity to blood vessels, nerves, and nerve terminals that are synaptically connected to the brainstem and spinal cord.","PeriodicalId":54585,"journal":{"name":"Prion","volume":"17 1","pages":"67-74"},"PeriodicalIF":2.3,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10038025/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9330776","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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