{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T04:14:50Z","timestamp":1774584890334,"version":"3.50.1"},"reference-count":149,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2022,12,30]],"date-time":"2022-12-30T00:00:00Z","timestamp":1672358400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ministry of Education\u2019s Basic Science Research Program","award":["NRF-2021R1A6A1A03038996"],"award-info":[{"award-number":["NRF-2021R1A6A1A03038996"]}]},{"name":"Ministry of Education\u2019s Basic Science Research Program","award":["NRF-2020R1A2B5B01002463"],"award-info":[{"award-number":["NRF-2020R1A2B5B01002463"]}]},{"name":"Ministry of Education\u2019s Basic Science Research Program","award":["GCU-2019-0815"],"award-info":[{"award-number":["GCU-2019-0815"]}]},{"name":"National Research Foundation of Republic of Korea","award":["NRF-2021R1A6A1A03038996"],"award-info":[{"award-number":["NRF-2021R1A6A1A03038996"]}]},{"name":"National Research Foundation of Republic of Korea","award":["NRF-2020R1A2B5B01002463"],"award-info":[{"award-number":["NRF-2020R1A2B5B01002463"]}]},{"name":"National Research Foundation of Republic of Korea","award":["GCU-2019-0815"],"award-info":[{"award-number":["GCU-2019-0815"]}]},{"name":"Gachon University Research Fund of 2019","award":["NRF-2021R1A6A1A03038996"],"award-info":[{"award-number":["NRF-2021R1A6A1A03038996"]}]},{"name":"Gachon University Research Fund of 2019","award":["NRF-2020R1A2B5B01002463"],"award-info":[{"award-number":["NRF-2020R1A2B5B01002463"]}]},{"name":"Gachon University Research Fund of 2019","award":["GCU-2019-0815"],"award-info":[{"award-number":["GCU-2019-0815"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Prion gene (PRNP) mutations are associated with diverse disease phenotypes, including familiar Creutzfeldt\u2013Jakob Disease (CJD), Gerstmann\u2013Str\u00e4ussler\u2013Scheinker disease (GSS), and fatal familial insomnia (FFI). Interestingly, PRNP mutations have been reported in patients diagnosed with Alzheimer\u2019s disease, dementia with Lewy bodies, Parkinson\u2019s disease, and frontotemporal dementia. In this review, we describe prion mutations in Asian countries, including Republic of Republic of Korea, China, and Japan. Clinical phenotypes and imaging data related to these mutations have also been introduced in detail. Several prion mutations are specific to Asians and have rarely been reported in countries outside Asia. For example, PRNP V180I and M232R, which are rare in other countries, are frequently detected in Republic of Korea and Japan. PRNP T188K is common in China, and E200K is significantly more common among Libyan Jews in Israel. The A117V mutation has not been detected in any Asian population, although it is commonly reported among European GSS patients. In addition, V210I or octapeptide insertion is common among European CJD patients, but relatively rare among Asian patients. The reason for these differences may be geographical or ethical isolation. In terms of clinical phenotypes, V180I, P102L, and E200K present diverse clinical symptoms with disease duration, which could be due to other genetic and environmental influences. For example, rs189305274 in the ACO1 gene may be associated with neuroprotective effects in cases of V180I mutation, leading to longer disease survival. Additional neuroprotective variants may be possible in cases featuring the E200K mutation, such as KLKB1, KARS, NRXN2, LAMA3, or CYP4X1. E219K has been suggested to modify the disease course in cases featuring the P102L mutation, as it may result in the absence of prion protein-positive plaques in tissue stained with Congo red. However, these studies analyzed only a few patients and may be too preliminary. The findings need to be verified in studies with larger sample sizes or in other populations. It would be interesting to probe additional genetic factors that cause disease progression or act as neuroprotective factors. Further studies are needed on genetic modifiers working with prions and alterations from mutations.<\/jats:p>","DOI":"10.3390\/ijms24010625","type":"journal-article","created":{"date-parts":[[2022,12,30]],"date-time":"2022-12-30T03:31:17Z","timestamp":1672371077000},"page":"625","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Prion Mutations in Republic of Republic of Korea, China, and Japan"],"prefix":"10.3390","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9346-5207","authenticated-orcid":false,"given":"Dan Yeong","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Bionano Technology, Gachon University, Seongnam 13120, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5402-337X","authenticated-orcid":false,"given":"Kyu Hwan","family":"Shim","sequence":"additional","affiliation":[{"name":"Department of Bionano Technology, Gachon University, Seongnam 13120, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0487-8668","authenticated-orcid":false,"given":"Eva","family":"Bagyinszky","sequence":"additional","affiliation":[{"name":"Department of Industrial and Environmental Engineering, Graduate School of Environment, Gachon University, Seongnam 13120, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8123-6183","authenticated-orcid":false,"given":"Seong Soo A.","family":"An","sequence":"additional","affiliation":[{"name":"Department of Bionano Technology, Gachon University, Seongnam 13120, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,12,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2067","DOI":"10.2147\/NDT.S165445","article-title":"Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases","volume":"14","author":"Bagyinszky","year":"2018","journal-title":"Neuropsychiatr. 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