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  • *Phenotype  (1)
  • *Protein Conformation  (1)
  • American Association for the Advancement of Science (AAAS)  (2)
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  • American Association for the Advancement of Science (AAAS)  (2)
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  • 1
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    Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism (1992)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1992-10-30
    Description: Fatal familial insomnia (FFI) and a subtype of familial Creutzfeldt-Jakob disease (CJD), two clinically and pathologically distinct diseases, are linked to the same mutation at codon 178 (Asn178) of the prion protein gene. The possibility that a second genetic component modified the phenotypic expression of the Asn178 mutation was investigated. FFI and the familial CJD subtype segregated with different genotypes determined by the Asn178 mutation and the methionine-valine polymorphism at codon 129. The Met129, Asn178 allele segregated with FFI in all 15 affected members of five kindreds whereas the Val129, Asn178 allele segregated with the familial CJD subtype in all 15 affected members of six kindreds. Thus, two distinct disease phenotypes linked to a single pathogenic mutation can be determined by a common polymorphism.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Goldfarb, L G -- Petersen, R B -- Tabaton, M -- Brown, P -- LeBlanc, A C -- Montagna, P -- Cortelli, P -- Julien, J -- Vital, C -- Pendelbury, W W -- 1 R01 AGNS08155-02/AG/NIA NIH HHS/ -- AG-08012-02/AG/NIA NIH HHS/ -- NS 14509-13/NS/NINDS NIH HHS/ -- New York, N.Y. -- Science. 1992 Oct 30;258(5083):806-8.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Laboratory of Central Nervous System Studies, National Institute of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, Maryland 20892.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/1439789" target="_blank"〉PubMed〈/a〉
    Keywords: Adult ; Asparagine/genetics ; Chromosomes, Human, Pair 20 ; Codon ; Creutzfeldt-Jakob Syndrome/*genetics ; DNA/*genetics ; Genotype ; Humans ; Middle Aged ; *Mutation ; *Phenotype ; *Polymorphism, Genetic ; Prion Diseases/*genetics ; Prions/genetics ; Valine/genetics
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 2
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    Evidence for the conformation of the pathologic isoform of the prion protein enciphering and propagating prion diversity (1996)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1996-12-20
    Description: The fundamental event in prion diseases seems to be a conformational change in cellular prion protein (PrPC) whereby it is converted into the pathologic isoform PrPSc. In fatal familial insomnia (FFI), the protease-resistant fragment of PrPSc after deglycosylation has a size of 19 kilodaltons, whereas that from other inherited and sporadic prion diseases is 21 kilodaltons. Extracts from the brains of FFI patients transmitted disease to transgenic mice expressing a chimeric human-mouse PrP gene about 200 days after inoculation and induced formation of the 19-kilodalton PrPSc fragment, whereas extracts from the brains of familial and sporadic Creutzfeldt-Jakob disease patients produced the 21-kilodalton PrPSc fragment in these mice. The results presented indicate that the conformation of PrPSc functions as a template in directing the formation of nascent PrPSc and suggest a mechanism to explain strains of prions where diversity is encrypted in the conformation of PrPSc.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Telling, G C -- Parchi, P -- DeArmond, S J -- Cortelli, P -- Montagna, P -- Gabizon, R -- Mastrianni, J -- Lugaresi, E -- Gambetti, P -- Prusiner, S B -- NS07219/NS/NINDS NIH HHS/ -- New York, N.Y. -- Science. 1996 Dec 20;274(5295):2079-82.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Neurology, University of California, San Francisco, CA 94143, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/8953038" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Brain/*pathology ; *Brain Chemistry ; Creutzfeldt-Jakob Syndrome/metabolism/pathology ; Humans ; Mice ; Mice, Transgenic ; PrPSc Proteins/analysis/*chemistry ; Prion Diseases/*etiology/metabolism/pathology/transmission ; Prions/*chemistry ; *Protein Conformation ; Protein Folding ; Protein Structure, Secondary ; Protein Structure, Tertiary
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
    Location Call Number Expected Availability
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    PAPER CURRENT
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