{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T03:15:09Z","timestamp":1760238909029,"version":"build-2065373602"},"reference-count":34,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2022,7,18]],"date-time":"2022-07-18T00:00:00Z","timestamp":1658102400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003725","name":"Korean government (MSIT)","doi-asserted-by":"publisher","award":["2021R1A2C1013213","2022R1C1C2004792","2017R1A6A1A03015876","2021R1A6A3A010864"],"award-info":[{"award-number":["2021R1A2C1013213","2022R1C1C2004792","2017R1A6A1A03015876","2021R1A6A3A010864"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003725","name":"Ministry of Education","doi-asserted-by":"publisher","award":["2021R1A2C1013213","2022R1C1C2004792","2017R1A6A1A03015876","2021R1A6A3A010864"],"award-info":[{"award-number":["2021R1A2C1013213","2022R1C1C2004792","2017R1A6A1A03015876","2021R1A6A3A010864"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>Background and Objectives: Prion diseases are fatal neurodegenerative disorders caused by the abnormal proteinase K-resistant prion protein (PrPSc). Since variant Creutzfeldt\u2013Jakob disease (CJD) was first reported in the United Kingdom (UK) in 1996, the occurrence of variant CJD has been reported in over 10 countries. To date, variant CJD has not been reported in Korea. However, the E211K somatic mutation in the prion protein gene (PRNP), which is related to bovine spongiform encephalopathy (BSE), was reported in Korean Holstein cattle, and atypical BSE, which is supposed to be sporadic BSE, has been occurring in many countries, including Japan and the USA. These results suggest that BSE may occur naturally in Korea. Thus, we performed a preemptive PrPSc test in appendix specimens to diagnose variant CJD in a Korean population. Materials and Methods: In the present study, we investigated CJD-related mutations and polymorphisms of the PRNP gene and carried out an examination on PrPSc in appendix specimens of Korean patients after appendectomy. Results: In all Korean appendix specimens tested, PrPSc bands were not detected. Conclusion: To the best of our knowledge, this was the first evaluation of PrPSc in Korean appendix specimens.<\/jats:p>","DOI":"10.3390\/medicina58070947","type":"journal-article","created":{"date-parts":[[2022,7,18]],"date-time":"2022-07-18T11:32:23Z","timestamp":1658143943000},"page":"947","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The First Evaluation of Proteinase K-Resistant Prion Protein (PrPSc) in Korean Appendix Specimens"],"prefix":"10.3390","volume":"58","author":[{"given":"Sae-Young","family":"Won","sequence":"first","affiliation":[{"name":"Korea Zoonosis Research Institute, Jeonbuk National University, Iksan 54531, Jeonbuk, Korea"},{"name":"Department of Bioactive Material Sciences, Institute for Molecular Biology and Genetics, Jeonbuk National University, Jeonju 54896, Jeonbuk, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yong-Chan","family":"Kim","sequence":"additional","affiliation":[{"name":"Korea Zoonosis Research Institute, Jeonbuk National University, Iksan 54531, Jeonbuk, Korea"},{"name":"Department of Bioactive Material Sciences, Institute for Molecular Biology and Genetics, Jeonbuk National University, Jeonju 54896, Jeonbuk, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu-Ni","family":"Lee","sequence":"additional","affiliation":[{"name":"Presbyterian Medical Center, Jeonju 54987, Jeonbuk, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chan-Gyun","family":"Park","sequence":"additional","affiliation":[{"name":"Presbyterian Medical Center, Jeonju 54987, Jeonbuk, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Woo-Young","family":"Kim","sequence":"additional","affiliation":[{"name":"Presbyterian Medical Center, Jeonju 54987, Jeonbuk, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4525-9994","authenticated-orcid":false,"given":"Byung-Hoon","family":"Jeong","sequence":"additional","affiliation":[{"name":"Korea Zoonosis Research Institute, Jeonbuk National University, Iksan 54531, Jeonbuk, Korea"},{"name":"Department of Bioactive Material Sciences, Institute for Molecular Biology and Genetics, Jeonbuk National University, Jeonju 54896, Jeonbuk, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,7,18]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1515","DOI":"10.1126\/science.1675487","article-title":"Molecular biology of prion diseases","volume":"252","author":"Prusiner","year":"1991","journal-title":"Science"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1016\/j.bbadis.2007.02.010","article-title":"Update on human prion disease","volume":"1772","author":"Wadsworth","year":"2007","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1093\/bmb\/66.1.213","article-title":"Sporadic and familial CJD: Classification and characterisation","volume":"66","author":"Gambetti","year":"2003","journal-title":"Br. Med. Bull."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"e2","DOI":"10.1016\/S1473-3099(19)30615-2","article-title":"Creutzfeldt-Jakob disease: A systematic review of global incidence, prevalence, infectivity, and incubation","volume":"20","author":"Uttley","year":"2020","journal-title":"Lancet Infect. Dis."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1283","DOI":"10.1002\/ajmg.b.31099","article-title":"Somatic mosaicism in a case of apparently sporadic Creutzfeldt-Jakob disease carrying a de novo D178N mutation in the PRNP gene","volume":"153","author":"Alzualde","year":"2010","journal-title":"Am. J. Med. Genet. B Neuropsychiatric Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"e53","DOI":"10.1136\/jmg.2006.040931","article-title":"Significant association of a M129V independent polymorphism in the 5\u2019 UTR of the PRNP gene with sporadic Creutzfeldt-Jakob disease in a large German case-control study","volume":"43","author":"Vollmert","year":"2006","journal-title":"J. Med. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"623","DOI":"10.3346\/jkms.2014.29.5.623","article-title":"Genetic studies in human prion diseases","volume":"29","author":"Jeong","year":"2014","journal-title":"J. Korean Med. Sci."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1207","DOI":"10.1016\/j.jocn.2013.01.007","article-title":"Iatrogenic Creutzfeldt-Jakob disease via surgical instruments","volume":"20","author":"Thomas","year":"2013","journal-title":"J. Clin. Neurosci."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1136\/bmj.325.7355.102","article-title":"vCJD: The epidemic that never was. New variant Creutzfeldt-Jakob disease: The critique that never was","volume":"325","author":"Will","year":"2002","journal-title":"BMJ"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/S0140-6736(98)12075-5","article-title":"Investigation of variant Creutzfeldt-Jakob disease and other human prion diseases with tonsil biopsy samples","volume":"353","author":"Hill","year":"1999","journal-title":"Lancet"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1007\/s00401-020-02153-7","article-title":"Prevalence in Britain of abnormal prion protein in human appendices before and after exposure to the cattle BSE epizootic","volume":"139","author":"Gill","year":"2020","journal-title":"Acta Neuropathol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1056\/NEJMc1610003","article-title":"Variant Creutzfeldt-Jakob Disease in a Patient with Heterozygosity at PRNP Codon 129","volume":"376","author":"Mok","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1002\/ana.23589","article-title":"Real time quaking-induced conversion analysis of cerebrospinal fluid in sporadic Creutzfeldt-Jakob disease","volume":"72","author":"McGuire","year":"2012","journal-title":"Ann. Neurol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1007\/s10048-005-0016-y","article-title":"Association of sporadic Creutzfeldt-Jakob disease with homozygous genotypes at PRNP codons 129 and 219 in the Korean population","volume":"6","author":"Jeong","year":"2005","journal-title":"Neurogenetics"},{"key":"ref_15","doi-asserted-by":"crossref","unstructured":"Kim, Y.C., and Jeong, B.H. (2021). The First Meta-Analysis of the M129V Single-Nucleotide Polymorphism (SNP) of the Prion Protein Gene (PRNP) with Sporadic Creutzfeldt-Jakob Disease. Cells, 10.","DOI":"10.2139\/ssrn.3825525"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"976","DOI":"10.1038\/nm0901-976","article-title":"Transepithelial prion transport by M cells","volume":"7","author":"Heppner","year":"2001","journal-title":"Nat. Med."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"e01010","DOI":"10.1128\/JVI.01010-18","article-title":"Oral Prion Neuroinvasion Occurs Independently of PrP(C) Expression in the Gut Epithelium","volume":"92","author":"Marshall","year":"2018","journal-title":"J. Virol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1136\/bmj.325.7365.633","article-title":"Accumulation of prion protein in tonsil and appendix: Review of tissue samples","volume":"325","author":"Hilton","year":"2002","journal-title":"BMJ"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1038\/s41582-021-00488-7","article-title":"The importance of ongoing international surveillance for Creutzfeldt-Jakob disease","volume":"17","author":"Watson","year":"2021","journal-title":"Nat. Rev. Neurol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1093\/bmb\/66.1.185","article-title":"Bovine spongiform encephalopathy (BSE) and its epidemiology","volume":"66","author":"Smith","year":"2003","journal-title":"Br. Med. Bull."},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Priemer, G., Balkema-Buschmann, A., Hills, B., and Groschup, M.H. (2013). Biochemical Characteristics and PrP(Sc) Distribution Pattern in the Brains of Cattle Experimentally Challenged with H-type and L-type Atypical BSE. PLoS ONE, 8.","DOI":"10.1371\/journal.pone.0067599"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1038\/sj.embor.7400054","article-title":"Distinct molecular phenotypes in bovine prion diseases","volume":"5","author":"Biacabe","year":"2004","journal-title":"EMBO Rep."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"3065","DOI":"10.1073\/pnas.0305777101","article-title":"Identification of a second bovine amyloidotic spongiform encephalopathy: Molecular similarities with sporadic Creutzfeldt-Jakob disease","volume":"101","author":"Casalone","year":"2004","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1821","DOI":"10.1128\/JCM.00160-07","article-title":"Molecular discrimination of atypical bovine spongiform encephalopathy strains from a geographical region spanning a wide area in Europe","volume":"45","author":"Jacobs","year":"2007","journal-title":"J. Clin. Microbiol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1177\/104063870701900202","article-title":"Identification and characterization of two bovine spongiform encephalopathy cases diagnosed in the United States","volume":"19","author":"Richt","year":"2007","journal-title":"J. Vet. Diagn. Investig."},{"key":"ref_26","first-page":"221","article-title":"Atypical proteinase K-resistant prion protein (PrPres) observed in an apparently healthy 23-month-old Holstein steer","volume":"56","author":"Yamakawa","year":"2003","journal-title":"Jpn. J. Infect. Dis."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"298","DOI":"10.3201\/eid1402.071141","article-title":"Atypical bovine spongiform encephalopathies, France, 2001\u20132007","volume":"14","author":"Biacabe","year":"2008","journal-title":"Emerg. Infect. Dis."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"78","DOI":"10.3389\/fvets.2016.00078","article-title":"A Comparison of Classical and H-Type Bovine Spongiform Encephalopathy Associated with E211K Prion Protein Polymorphism in Wild-Type and EK211 Cattle Following Intracranial Inoculation","volume":"3","author":"Moore","year":"2016","journal-title":"Front. Vet. Sci."},{"key":"ref_29","doi-asserted-by":"crossref","unstructured":"Richt, J.A., and Hall, S.M. (2008). BSE case associated with prion protein gene mutation. PLoS Pathog., 4.","DOI":"10.1371\/journal.ppat.1000156"},{"key":"ref_30","doi-asserted-by":"crossref","unstructured":"Won, S.Y., Kim, Y.C., and Jeong, B.H. (2020). First Report of the Potential Bovine Spongiform Encephalopathy (BSE)-Related Somatic Mutation E211K of the Prion Protein Gene (PRNP) in Cattle. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21124246"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"f5675","DOI":"10.1136\/bmj.f5675","article-title":"Prevalent abnormal prion protein in human appendixes after bovine spongiform encephalopathy epizootic: Large scale survey","volume":"347","author":"Gill","year":"2013","journal-title":"BMJ"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1002\/path.1580","article-title":"Prevalence of lymphoreticular prion protein accumulation in UK tissue samples","volume":"203","author":"Hilton","year":"2004","journal-title":"J. Pathol."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1007\/s00401-009-0585-1","article-title":"Incidence and spectrum of sporadic Creutzfeldt-Jakob disease variants with mixed phenotype and co-occurrence of PrPSc types: An updated classification","volume":"118","author":"Parchi","year":"2009","journal-title":"Acta Neuropathol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"2281","DOI":"10.1038\/s41423-021-00747-z","article-title":"Altered expression of glymphatic system-related proteins in prion diseases: Implications for the role of the glymphatic system in prion diseases","volume":"18","author":"Kim","year":"2021","journal-title":"Cell. Mol. Immunol."}],"container-title":["Medicina"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1648-9144\/58\/7\/947\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T23:53:20Z","timestamp":1760140400000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1648-9144\/58\/7\/947"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7,18]]},"references-count":34,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2022,7]]}},"alternative-id":["medicina58070947"],"URL":"https:\/\/doi.org\/10.3390\/medicina58070947","relation":{},"ISSN":["1648-9144"],"issn-type":[{"type":"electronic","value":"1648-9144"}],"subject":[],"published":{"date-parts":[[2022,7,18]]}}}