Prion Mutations in Republic of Republic of Korea, China, and Japan
Prion gene (PRNP) mutations are associated with diverse disease phenotypes, including familiar Creutzfeldt–Jakob Disease (CJD), Gerstmann–Sträussler–Scheinker disease (GSS), and fatal familial insomnia (FFI). Interestingly, PRNP mutations have been reported in patients diagnosed with Alzheimer’s dis...
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| Language: | English |
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MDPI AG
2022-12-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/24/1/625 |
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| author | Dan Yeong Kim Kyu Hwan Shim Eva Bagyinszky Seong Soo A. An |
| author_facet | Dan Yeong Kim Kyu Hwan Shim Eva Bagyinszky Seong Soo A. An |
| author_sort | Dan Yeong Kim |
| collection | DOAJ |
| description | Prion gene (PRNP) mutations are associated with diverse disease phenotypes, including familiar Creutzfeldt–Jakob Disease (CJD), Gerstmann–Sträussler–Scheinker disease (GSS), and fatal familial insomnia (FFI). Interestingly, PRNP mutations have been reported in patients diagnosed with Alzheimer’s disease, dementia with Lewy bodies, Parkinson’s 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. |
| first_indexed | 2024-03-11T09:59:14Z |
| format | Article |
| id | doaj.art-cbe38830863147a88e43e1f3e8eef795 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-11T09:59:14Z |
| publishDate | 2022-12-01 |
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| series | International Journal of Molecular Sciences |
| spelling | doaj.art-cbe38830863147a88e43e1f3e8eef7952023-11-16T15:36:07ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672022-12-0124162510.3390/ijms24010625Prion Mutations in Republic of Republic of Korea, China, and JapanDan Yeong Kim0Kyu Hwan Shim1Eva Bagyinszky2Seong Soo A. An3Department of Bionano Technology, Gachon University, Seongnam 13120, Republic of KoreaDepartment of Bionano Technology, Gachon University, Seongnam 13120, Republic of KoreaDepartment of Industrial and Environmental Engineering, Graduate School of Environment, Gachon University, Seongnam 13120, Republic of KoreaDepartment of Bionano Technology, Gachon University, Seongnam 13120, Republic of KoreaPrion gene (PRNP) mutations are associated with diverse disease phenotypes, including familiar Creutzfeldt–Jakob Disease (CJD), Gerstmann–Sträussler–Scheinker disease (GSS), and fatal familial insomnia (FFI). Interestingly, PRNP mutations have been reported in patients diagnosed with Alzheimer’s disease, dementia with Lewy bodies, Parkinson’s 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.https://www.mdpi.com/1422-0067/24/1/625prionCreutzfeldt–Jakob disease (CJD)fatal familial insomnia (FFI)Gerstmann–Sträussler–Scheinker disease (GSS)mutationrisk modifiers |
| spellingShingle | Dan Yeong Kim Kyu Hwan Shim Eva Bagyinszky Seong Soo A. An Prion Mutations in Republic of Republic of Korea, China, and Japan International Journal of Molecular Sciences prion Creutzfeldt–Jakob disease (CJD) fatal familial insomnia (FFI) Gerstmann–Sträussler–Scheinker disease (GSS) mutation risk modifiers |
| title | Prion Mutations in Republic of Republic of Korea, China, and Japan |
| title_full | Prion Mutations in Republic of Republic of Korea, China, and Japan |
| title_fullStr | Prion Mutations in Republic of Republic of Korea, China, and Japan |
| title_full_unstemmed | Prion Mutations in Republic of Republic of Korea, China, and Japan |
| title_short | Prion Mutations in Republic of Republic of Korea, China, and Japan |
| title_sort | prion mutations in republic of republic of korea china and japan |
| topic | prion Creutzfeldt–Jakob disease (CJD) fatal familial insomnia (FFI) Gerstmann–Sträussler–Scheinker disease (GSS) mutation risk modifiers |
| url | https://www.mdpi.com/1422-0067/24/1/625 |
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