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

Insight into the conserved structural dynamics of the C-terminus of mammal PrPC identifies structural core and possible structural role of pharmacological chaperones. 通过对哺乳动物PrPC c端保守结构动力学的深入研究，确定了其结构核心和可能的药理伴侣蛋白结构作用。

IF 1.6 3区生物学

Prion Pub Date : 2023-12-01 DOI: 10.1080/19336896.2023.2186674

Patricia Soto, Garrett M Gloeb, Kaitlin A Tsuchida, Austin A Charles, Noah M Greenwood, Heidi Hendrickson

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

Viruses and amyloids - a vicious liaison. 病毒和淀粉样蛋白——一种邪恶的联系。

IF 1.7 3区生物学

Prion Pub Date : 2023-12-01 DOI: 10.1080/19336896.2023.2194212

Per Hammarström, Sofie Nyström

{"title":"Viruses and amyloids - a vicious liaison.","authors":"Per Hammarström, Sofie Nyström","doi":"10.1080/19336896.2023.2194212","DOIUrl":"10.1080/19336896.2023.2194212","url":null,"abstract":"The crosstalk between viral infections, amyloid formation and neurodegeneration has been discussed with varying intensity since the last century. Several viral proteins are known to be amyloidogenic. Post-acute sequalae (PAS) of viral infections is known for several viruses. SARS-CoV-2 and COVID-19 implicate connections between amyloid formation and severe outcomes in the acute infection, PAS and neurodegenerative diseases. Is the amyloid connection causation or just correlation? In this review we highlight several aspects where amyloids and viruses meet. The evolutionary driving forces that dictate protein amyloid formation propensity are different for viruses compared to prokaryotes and eukaryotes, while posttranslational endoproteolysis appears to be a common mechanism leading up to amyloid formation for both viral and human proteins. Not only do human and viral proteins form amyloid irrespective of each other but there are also several examples of co-operativity between amyloids, viruses and the inter-, and intra-host spread of the respective entity. Abnormal blood clotting in severe and long COVID and as a side effect in some vaccine recipients has been connected to amyloid formation of both the human fibrin and the viral Spike-protein. We conclude that there are many intersects between viruses and amyloids and, consequently, amyloid and virus research need to join forces here. We emphasize the need to accelerate development and implementation in clinical practice of antiviral drugs to preclude PAS and downstream neurological damage. There is also an ample need for retake on suitable antigen targets for the further development of next generation of vaccines against the current and coming pandemics.","PeriodicalId":54585,"journal":{"name":"Prion","volume":"17 1","pages":"82-104"},"PeriodicalIF":1.7,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10072076/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9666691","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

Post COVID-19 AA amyloidosis of the kidneys with rapidly progressive renal failure. COVID-19后AA型肾脏淀粉样变伴快速进行性肾功能衰竭

IF 1.6 3区生物学

Prion Pub Date : 2023-12-01 DOI: 10.1080/19336896.2023.2201151

Tajamul H Mir, Parvaiz A Zargar, Alok Sharma, Bushra Jabeen, Shephali Sharma, M Omar Parvaiz, Sabah Bashir, Reem Javeed

{"title":"Post COVID-19 AA amyloidosis of the kidneys with rapidly progressive renal failure.","authors":"Tajamul H Mir, Parvaiz A Zargar, Alok Sharma, Bushra Jabeen, Shephali Sharma, M Omar Parvaiz, Sabah Bashir, Reem Javeed","doi":"10.1080/19336896.2023.2201151","DOIUrl":"10.1080/19336896.2023.2201151","url":null,"abstract":"Coronavirus disease 2019 (COVID-19) pandemic has taken the world by a storm, posing a gruelling challenge to the medical fraternity globally. Besides its very high infectivityinfectivity, significant organ dysfunction occurs in critically ill COVID-19 patients, leading to severe morbidity and mortality. Pulmonary involvement is the leading cause of death in these patients to be followed by the cardiovascular involvement. Kidney involvement due to COVID-19 is becoming more discernible with AKI adversely affecting the outcome. Besides AKI, a few cases of collapsing FSGS in genetically vulnerable patients and thrombotic microangiopathies have been reported as well. We report a case of AA amyloidosis of the kidney with a rapidly progressive renal failure and congestive heart failure with preserved left ventricular functions, which complicated a moderate COVID-19 pneumonia providing some clues to a possible association of this novel virus disease with this complication, which needs to be confirmed in future studies.","PeriodicalId":54585,"journal":{"name":"Prion","volume":"17 1","pages":"111-115"},"PeriodicalIF":1.6,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/00/72/KPRN_17_2201151.PMC10114959.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9672936","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 family with mental disorder as the first symptom finally confirmed with Gerstmann-Sträussler-Scheinker disease with P102L mutation in PRNP gene - case report. 1例以精神障碍为首发症状的家庭最终确诊为Gerstmann-Sträussler-Scheinker PRNP基因P102L突变疾病1例。

IF 1.9 3区生物学

Prion Pub Date : 2023-12-01 DOI: 10.1080/19336896.2023.2180255

Zeran Chen, Junjun Guo, Ningjing Ran, Yujia Zhong, Fang Yang, Honghui Sun

{"title":"A family with mental disorder as the first symptom finally confirmed with Gerstmann-Sträussler-Scheinker disease with P102L mutation in PRNP gene - case report.","authors":"Zeran Chen, Junjun Guo, Ningjing Ran, Yujia Zhong, Fang Yang, Honghui Sun","doi":"10.1080/19336896.2023.2180255","DOIUrl":"10.1080/19336896.2023.2180255","url":null,"abstract":"Gerstmann-Sträussler-Scheinker (GSS) disease is an autosomal dominant neurodegenerative disease, and it is characterized by progressive cerebellar ataxia. Up to now, GSS cases with the p.P102L mutation have mainly been reported in Caucasian, but rarely in Asian populations. A 54-year-old female patient presented with an unstable gait in the hospital. Last year, she was unable to walk steadily and occasionally choked, could not even walk independently gradually. After taking her medical history, we found that she was misdiagnosed with schizophrenia before the gait problems. The patient's father showed similar symptoms and was diagnosed with brain atrophy at the age of 56, but her daughter showed no similar symptoms at present. On arrival at the Neurology Department, the patient's vital signs and laboratory examinations showed no abnormality. As the proband presented with cerebellar ataxia and had an obvious family history, we were sure that she had hereditary cerebellar ataxia. Then, patient's brain MRI showed an abnormal signal in the right parietal cortex and bilateral small ischaemic lesions in the frontal lobe. A gene panel (including 142 ataxia-related genes) was performed, and a heterozygous mutation PRNP Exon2 c.305C>T p. (Pro102Leu) was identified. Her daughter had the same heterozygous mutation. The patient was diagnosed with GSS with mental disorders as initial symptoms. After 2 months of TCM treatment, the patient's walking instability decreased, and her emotional fluctuations were less than before. In conclusion, we have reported a rare case of GSS in Sichuan, China, and the family with mental disorder as the first symptom was finally confirmed with GSS PRNP P102L mutation.","PeriodicalId":54585,"journal":{"name":"Prion","volume":"17 1","pages":"37-43"},"PeriodicalIF":1.9,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/3b/5c/KPRN_17_2180255.PMC9980613.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9387559","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

Two Chinese patients of sporadic Creutzfeldt-Jacob disease with a S97N mutation in PRNP gene. 伴有PRNP基因S97N突变的中国散发性克雅氏病2例。

IF 1.9 3区生物学

Prion Pub Date : 2023-12-01 Epub Date: 2023-11-14 DOI: 10.1080/19336896.2023.2276921

Dong-Lin Liang, Qi Shi, Kang Xiao, Ruhan A, Wei Zhou, Xiao-Ping Dong

引用次数: 0

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