Allelic origin of the abnormal prion protein isoform in familial prion diseases

Nature Medicine

Volumn 3, Issue 9, 1997, Pages 1009-1015

  Chen, Shu G ^a   Parchi, Piero ^a   Brown, Paul ^b   Capellari, Sabina ^a   Zou, Wenquan ^a   Cochran, Elizabeth J ^c   Vnencak Jones, Cindy L ^d   Julien, Jean ^e   Vital, Claude ^e   Mikol, Jacqueline ^f   Lugaresi, Elio ^g   Autilio Gambetti, Lucila ^a   Gambetti, Pierluigi ^a  

^a CASE WESTERN RESERVE UNIVERSITY   (United States)

^b NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^c RUSH UNIVERSITY MEDICAL CENTER   (United States)

^d VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^e BORDEAUX UNIVERSITY HOSPITAL   (France)

^f HÔPITAL LARIBOISIÈRE   (France)

^g UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

PRION PROTEIN; PROTEINASE;

ALLELE; ARTICLE; CONTROLLED STUDY; CREUTZFELDT JAKOB DISEASE; FAMILIAL DISEASE; FATAL FAMILIAL INSOMNIA; GENE MUTATION; GENETIC HETEROGENEITY; GERSTMANN STRAUSSLER SCHEINKER SYNDROME; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; NERVE DEGENERATION; PRION DISEASE; PRIORITY JOURNAL; PROTEIN POLYMORPHISM; PROTEIN PURIFICATION;

ALLELES; CREUTZFELDT-JAKOB SYNDROME; DETERGENTS; ENDOPEPTIDASES; HETEROZYGOTE; HUMANS; MUTATION; PEPTIDE MAPPING; PHENOTYPE; POINT MUTATION; PRION DISEASES; PRIONS; SLEEP INITIATION AND MAINTENANCE DISORDERS; SOLUBILITY;

EID: 0030768832     PISSN: 10788956     EISSN: None     Source Type: Journal    
DOI: 10.1038/nm0997-1009     Document Type: Article

References (45)

1. DeArmond, S.J. & Prusiner, S.B. Etiology and pathogenesis of priori disease. Am. J. Pathol. 146, 785-811 (1995).
2. Parchi, P. & Gambetti, P. Human prion diseases. Curr. Opin. Neurol. 8, 286-293 (1995).
3. Goldfarb, L.G. et al. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: Disease phenotype determined by a DNA polymorphism. Science 258, 806-808 (1992).
4. Mckinley, M.P., Bolton, D.C. & Prusiner, S.B. A protease-resistant protein is a structural component of the scrapie prion. Cell 35, 57-62 (1983).
5. Meyer, R.K. et al. Separation and properties of cellular and scrapie prion proteins. Proc Natl. Acad. Sci. USA 83, 2310-2314 (1986).
6. Oesch, B. et al. A cellular gene encodes scrapie PrP 27-30 protein. Cell 40, 735-746 (1985).
7. Basler, K. et al. Scrapie and cellular PrP isoforms are encoded by the same chromosomal gene. Cell 46, 417-428 (1986).
8. Stahl, N. et al. Structural analysis of the scrapie prion protein using mass spectrometry and amino acid sequencing. Biochemistry 32, 1991-2002 (1993).
9. Caughey, B.W. et al. Secondary structure analysis of the scrapie-associated protein PrP 27-30 in water by infrared spectroscopy. Biochemistry. 30, 7672-7680 (1991).
10. Pan, K.-M. et al. Conversion of α-helices into β-sheets features in the formation of the scrapie prion proteins. Proc. Natl. Acad. Sci. USA 90, 10962-10966 (1993).
11. Safar, J., Roller, P.P., Cajdusek, D.C. & Gibbs, C.J. Conformational transitions, dissociation, and unfolding of scrapie amyloid (prion) protein. J. Biol. Chem. 268, 20276-20284 (1993).
12. Kocisko, D.A. et al. Cell-free formation of protease-resistant prion protein. Nature 370, 471-474 (1994).
13. Kocisko, D.A. et al. Species specificity in the cell-free conversion of prion protein to protease-resistant forms: A model for the scrapie species barrier. Proc. Natl. Acad. Sci. USA 92, 3923-3927 (1995).
14. Kitamoto, T., Lizuka, R. & Tateishi, J. An amber mutation of prion protein in Cerstmann-Straussler syndrome with mutant PrP plaques. Biochem. Biophys. Res. Commun. 192, 525-531 (1993).
15. Tagliavini, F. et al. Amyloid fibrils in Gerstmann-Straussler-Scheinker disease (Indiana and Swedish kindreds) express only PrP peptides encoded by the mutant allele. Cell 79, 695-703 (1994).
16. Cabizon, R. et al. Insoluble wild-type and protease-resistant mutant prion protein in brains of patients with inherited prion diseases. Nature Med. 2, 59-64. (1996).
17. Bosque, P.J., Vnencak-Jones, C.L., Johnson, M.D., Whitlock, J.A. & McLean, M.J. A PrP gene codon 178 base substitution and a 24-bp interstitial deletion in familial Creutzfeldt-Jakob disease. Neurology 42, 1864-1870 (1992).
18. Reder, A.T. et al. Clinical and genetic studies of fatal familial insomnia. Neurology 45, 1068-1075 (1995).
19. Palmer, M. S. et al. Deletions in the prion protein gene are not associated with CJD. Hum. Mol. Genet. 2, 541-544 (1993).
20. Owen, F. et al. An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease. Mol. Brain Res. 7, 273-276 (1990).
21. Goldfarb, L. G. et al. Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene. Proc. Natl. Acad. Sci. USA 88, 10926-10930 (1991).
22. Capellari, S. et al. Familial prion disease with a novel 144-bp insertion in the prion protein gene in a Basque family. Neurology 49, 133-141 (1997).
23. Chen, S.G. et al. Truncated forms of the human prion protein in normal and in prion diseases. J. Biol. Chem. 270, 19173-19180 (1995).
24. Bolton, D.C., Bendheim, P.E., Marmorstein, A.D. & Potempska, A. Isolation and structure studies of the intact scrapie agent protein. Arch. Biochem. Biophys. 258, 579-590 (1987).
25. Monari, L. et al. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: Different prion proteins determined by a DNA polymorphism. Proc. Natl. Acad. Sci. USA, 91, 2839-2842 (1994).
26. Parchi, P. et al. Molecular basis of phenotypic variability in sporadic Creutzfeldt-Jakob disease. Ann. Neurol. 39, 767-778 (1996).
27. Parchi, P. et al. Typing prion isoforms. Nature 386, 232-233 (1997).
28. Weissmann, C. Molecular biology of transmissible spongiform encephalopathies. FEBS Let. 389, 3-11 (1996).
29. Parchi, P. et al. Regional distribution of protease-resistant prion protein in fatal familial insomnia. Ann. Neurol. 38, 21-29 (1995).
30. Gambetti, P., Parchi, P., Petersen, R.B., Chen, S.G. & Lugaresi, E. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: Clinical, pathological and molecular features. Brain Pathol. 5, 43-51 (1995).
31. Petersen, R.B., Parchi, P., Richardson, S.L., Urig, C.B. & Gambetti, P. Effect of the D178N mutation and the codon 129 polymorphism on the metabolism of the prion protein. J. Biol. Chem. 271, 12661-12668 (1996).
32. Collinge, J. et al. Transmission of fatal familial insomnia to laboratory animals. Lancet 346, 569-570 (1995).
33. Tateishi, J. et al. First experimental transmission of fatal familial insomnia. Nature 376, 434-435 (1995).
34. Brown, P. et al. Phenotypic characteristics of familial Creutzfeldt-Jakob disease associated with the codon 178Asn PRNP mutation. Ann Neurol. 31, 282-285 (1992).
35. Telling, G.C. et al. Evidence for the conformation of the pathologic isoform of the prion protein enciphering and propagating prion diversity. Science 274, 2079-2082 (1996).
36. Palmer, M.S., Dryden, A.J., Hughes, J.T. & Collinge, J. (1991). Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease. Nature 352, 340-342 (1991).
37. Cochran, E.J. et al. Familial Creutzfeldt-Jakob disease with a five-repeat octapeptide insert mutation. Neurology 47, 727-733 (1996).
38. Bertoni, J.M., Brown, P., Goldfarb, L.G., Rubenstein, R. & Gajdusek, D.C. Familial Creutzfeldt-Jakob disease (codon 200 mutation) with supranuclear palsy. JAMA 268, 2413-2415 (1992).
39. Chapman, J. et al. Clinical heterogeneity and unusual presentations of Creutzfeldt-Jakob disease in Jewish patients with the PRNP codon 200 mutation. J. Neurol. Neurosurg. Psychiatry 56, 1109-1112 (1993).
40. Lys mutation. Neurology 46, 758-761 (1996).
41. Kascsak, R.J. et al. Mouse polyclonal and monoclonal antibody to scrapie-associated fibril proteins. J. Virol. 61, 3688-3693 (1987).
42. Merrill, C.R., Goldman, D., Sedman, S.A. & Ebert, M.H. Ultrasensitive stain for proteins in polyacrylamide gels shows regional variation in cerebrospinal fluid proteins. Science 211, 1437-1438 (1981).
43. Bayer, E.A., Safars, M. & Wilchek, M. Selective labeling of sulfhydryls and disulfides on blot transfers using avidin-biotin technology: Studies on purified proteins and erythrocyte membranes. Anal. Biochem. 161, 262-271 (1987).
44. Schagger, H. & von Jagow, G. Tricine-sodium dodecyl sulfate-polyacrylamide gel electrophoresis for the separation of proteins in the range from 1 to 100 kDa. Anal. Biochem. 166, 368-379 (1987).
45. Asn PRNP mutation in families of European origin. Ann. Neurol. 31, 274-281 (1992).