Document Detail


Molecular approaches to mechanisms of prion diseases.
MedLine Citation:
PMID:  15449458     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Prion diseases such as scrapie in sheep, bovine spongiform encephalopathy in cattle, Creutzfeldt-Jakob disease, Gerstmann-Sträussler-Scheinker disease and fatal familial insomnia in man are neurodegenerative disorders. In humans, the diseases can be sporadic, inherited, or acquired by infection. The underlying pathogenic event in prion diseases is a conformational modification of the cellular isoform prion protein (PrP(C)) to the pathogenic isoform (PrP(SC)) that accumulates in the central nervous system. However, in humans, in some inherited cases the pathological PrP is not PrP(Sc), but a transmembrane form of prion protein, (Ctm)PrP. Prion protein is encoded by the cellular gene, PRNP, which has been mapped to human chromosome 20p21. Familial prion diseases are thought to result from a change in structure of the prion protein produced by the mutated PRNP gene. Furthermore, polymorphic codon 129 of the PRNP gene encodes either methionine or valine and appears to influence the susceptibility of patients to iatrogenic and sporadic CJD as well as the neuropathological phenotype in these forms of CJD. Polymorphisms in the promoter region of PRNP gene or disturbances in prion protein metabolism, such as incorrect activity of cellular chaperones or proteasomes are considered as susceptibility factors in human prion diseases.
Authors:
Jolanta Bratosiewicz-Wasik; Tomasz J Wasik; Paweł P Liberski
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Folia neuropathologica / Association of Polish Neuropathologists and Medical Research Centre, Polish Academy of Sciences     Volume:  42 Suppl A     ISSN:  1641-4640     ISO Abbreviation:  Folia Neuropathol     Publication Date:  2004  
Date Detail:
Created Date:  2004-09-28     Completed Date:  2004-10-21     Revised Date:  2006-11-28    
Medline Journal Info:
Nlm Unique ID:  9437431     Medline TA:  Folia Neuropathol     Country:  Poland    
Other Details:
Languages:  eng     Pagination:  33-46     Citation Subset:  IM    
Affiliation:
Department of Virology, Medical University of Silesia in Katowice, Katowice, Poland.
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MeSH Terms
Descriptor/Qualifier:
Amyloid / genetics
Animals
Apoptosis / physiology
Humans
Mutation
Nerve Degeneration / metabolism
Prion Diseases / genetics*
Prions / chemistry*,  genetics*,  metabolism*
Protein Precursors / genetics
Chemical
Reg. No./Substance:
0/Amyloid; 0/PRNP protein, human; 0/Prions; 0/Protein Precursors

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