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New Insights in Prion Diseases
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New Insights in Prion Diseases

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Neurobiology".

Deadline for manuscript submissions: closed (31 January 2024) | Viewed by 3839

Special Issue Editor

Dr. Eva Bagyinszky

E-Mail Website
Guest Editor
Department of Industrial and Environmental Engineering, Graduate School of Environment, Gachon University, Seongnam 13120, Republic of Korea
Interests: bioinformatics; neuroscience; molecular biology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Prion diseases are fatal neurodegenerative diseases, associated with the abnormal folding and aggregation of prion protein. Prion diseases present diverse phenotypes, including Creutzfeldt–Jakob disease (CJD), fatal familial insomnia (FFI), Gerstmann–Sträussler–Scheinker (GSS), and kuru, but they may also present atypical disease forms (Alzheimer’s-like or Parkinson’s-like phenotypes). Approximately 10–15% of prion diseases could be associated with genetic mutations in the prion (PRNP) gene. However, patients with the same mutation may present diverse clinical phenotype. In addition to M129V and E219K, emerging studies are available on possible genetic disease modifiers in case of prion mutations. Genome-wide-association and whole-genome/exome sequencing studies have identified potential candidates which may increase the risk for sporadic prion disease, such as RARB or STMN2. Currently, no therapies or treatments are available for prion disease. Studies are ongoing to develop drugs, which could be based on immunization, neuroprotection, or the prevention of PrPc to PrpSc conversion.

This Special Issue, “New Insights in Prion Diseases”, deals with various aspects of prion disease diagnosis and therapy. We are accepting review and original research articles, but case reports and short communications are also welcome. The scope of this Issue includes but is not limited to: 

  1. Prion diseases diagnosis; typical or atypical cases of prion diseases.
  2. Genetics of prion diseases, possible disease-modifying factors in case of prion mutation, genetic risk factors in the absence of PRNP mutation.
  3. Possible therapeutic strategies and neuroprotective factors in prion diseases.
  4. Pathological overlap between prion diseases and other neurodegenerative diseases.

This Special Issue will be of interest to clinicians and basic researchers working in neurodegenerative disease.

Dr. Eva Bagyinszky
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • prion diseases
  • prion mutation
  • genetic modifier
  • neurodegenerative diseases
  • therapy
  • neuroprotection

Published Papers (1 paper)

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Review

35 pages, 1121 KiB  
Review
Prion Mutations in Republic of Republic of Korea, China, and Japan
by Dan Yeong Kim, Kyu Hwan Shim, Eva Bagyinszky and Seong Soo A. An
Int. J. Mol. Sci. 2023, 24(1), 625; https://doi.org/10.3390/ijms24010625 - 30 Dec 2022
Cited by 4 | Viewed by 3331
Abstract
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 [...] Read more.
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. Full article
(This article belongs to the Special Issue New Insights in Prion Diseases)
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