Prion (PrPres) allotypes profiling: New perspectives from mass spectrometry

European Journal of Mass Spectrometry

Volumn 10, Issue 3 SPEC. ISS., 2004, Pages 371-382

  Maras, Bruno ^a,c   Barra, Donatella ^a,c,i   Schininà, M Eugenia ^a,c   Cardone, Franco ^a,b,c,d   Pocchiari, Maurizio ^{b,c,d,e,f,g,h}  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^c University La Sapienza ^*

^d UNIVERSITY OF SALENTO   (Italy)

^e CATHOLIC UNIVERSITY   (Italy)

^f CATHOLIC UNIVERSITY   (Italy)

^g CNR   (Italy)

^h UNIVERSITY OF L'AQUILA   (Italy)

ⁱ UNIVERSITY OF CAMERINO   (Italy)

Author keywords

Allotype profiling; Mass spectrometry; Prion protein; Transmissible spongiform encephalopathies

Indexed keywords

SPECTROSCOPY;

ALLOTYPE PROFILING; ALLOTYPES; BIOCHEMICAL METHODS; ELECTROSPRAYS; PRION PROTEIN; TRANSMISSIBLE SPONGIFORM ENCEPHALOPATHIES;

MASS SPECTROMETRY;

PRION PROTEIN;

ALLOTYPE; AMINO ACID SEQUENCE; AMINO TERMINAL SEQUENCE; CONFERENCE PAPER; CREUTZFELDT JAKOB DISEASE; ELECTROSPRAY MASS SPECTROMETRY; FAST ATOM BOMBARDMENT MASS SPECTROMETRY; FATAL FAMILIAL INSOMNIA; GENE MUTATION; GERSTMANN STRAUSSLER SCHEINKER SYNDROME; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; IMMUNOBLOTTING; ION MONITORING; MASS SPECTROMETRY; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; NONHUMAN; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PROTEIN ANALYSIS; PROTEIN FUNCTION; PROTEIN POLYMORPHISM; PROTEIN STRUCTURE; SINGLE NUCLEOTIDE POLYMORPHISM; WESTERN BLOTTING;

EID: 3042728335     PISSN: 14690667     EISSN: None     Source Type: Journal    
DOI: 10.1255/ejms.602     Document Type: Conference Paper

References (67)

1. J. Collinge, "Prion diseases of humans and animals: their causes and molecular basis", Annu. Rev. Neurosci. 24, 519 (2001).
2. P. Brown and R. Bradley, "1755 and all that: a historical primer of transmissible spongiform encephalopathy", Brit. Med. J. 317, 1688 (1998).
3. M. Pocchiari, "Prions and related neurological diseases", Mol. Aspects Med. 15, 195 (1994).
4. R.G. Will, J.W. Ironside, M. Zeidler, S.N. Cousens, K. Estibeiro, A. Alperovitch, S. Poser, M. Pocchiari, A. Hofman and P.G. Smith, "A new variant of Creutzfeldt-Jakob disease in the UK", Lancet 347, 921 (1996).
5. M.E. Bruce, R.G. Will, J.W. Ironside, I. McConnell, D. Drummond, A. Suttie, L. McCardle, A. Chree, J. Hope, C. Birkett, S. Cousens, H. Fraser and C.J. Bostock, "transmissions to mice indicate that 'new variant' CJD is caused by the BSE agent", Nature 389, 498 (1997).
6. L.G. Goldfarb, "Kuru: the old epidemic in a new mirror" Microbes Infect. 4, 875 (2002).
7. P. Brown, M. Preece, J.P. Brandel, T. Sato, L. McShane, I. Zerr, A. Fletcher, R.G. Will, M. Pocchiari, N.R. Cashman, J.H. d'Aignaux, L. Cervenakova, J. Fradkin, L.B. Schonberger and S.J. Collins, "Iatrogenic Creutzfeldt-Jakob disease at the millennium", Neurology 55, 1075 (2000).
8. C.M. van Duijn, N. Delasnerie-Laupretre, C. Masullo, I. Zerr, R. de Silva, D.P. Wientjens, J.P. Brandel, T. Weber, V. Bonavita, M. Zeidler, A. Alperovitch, S. Poser, E. Granieri, A. Hofman and R.G. Will, "Case-control study of risk factors of Creutzfeldt-Jakob disease in Europe during 1993-95. European Union (EU) Collaborative Study Group of Creutzfeldt-Jakob disease (CJD)", Lancet 351, 1081 (1998).
9. I. Zerr, J.P Brandel, C. Masullo, D. Wientjens, R. de Silva, M. Zeidler, E. Granieri, S. Sampaolo, C. van Duijn, N. Delasnerie-Laupretre, R. Will and S. Poser, "European surveillance on Creutzfeldt-Jakob disease: a case-control study for medical risk factors", J. Clin. Epidemiol. 53, 747 (2000).
10. H.J. Ward, D. Everington, E.A. Croes, A. Alperovitch, N. Delasnerie-Laupretre, I. Zerr, S. Poser and C.M. van Duijn, "Sporadic Creutzfeldt-Jakob disease and surgery: a case-control study using community controls", Neurology 59, 543 (2002).
11. K.M. Pan, M. Baldwin, J. Nguyen, M. Gasset, A. Serban, D. Groth, I. Mehlhorn, Z. Huang, R.J. Fletterick, F.E. Cohen and S.B. Prusiner, "Conversion of alpha-helices into beta-sheets features in the formation of the scrapie prion proteins", Proc. Natl. Acad. Sci. USA 90, 10962 (1993).
12. D.C. Bolton, M.P. McKinley and S.B. Prusiner, "Identification of a protein that purifies with the scrapie prion", Science 218, 1309 (1982).
13. S.B. Prusiner, "Prions", Proc. Natl. Acad. Sci. USA 95, 13363 (1998).
14. B. Chesebro, "BSE and prions: uncertainties about the agent", Science 279, 42 (1998).
15. W. Rachidi, D. Vilette, P. Guiraud, M. Arlotto, J. Riondel, H. Laude, S. Lehmann and A. Favier, "Expression of prion protein increases cellular copper binding and antioxidant enzyme activities but not copper delivery", J. Biol. Chem. 278, 9064 (2003).
16. S. Chen, A. Mange, L. Dong, S. Lehmann and M. Schachner, "Prion protein as trans-interacting partner for neurons is involved in neurite outgrowth and neuronal survival", Mol. Cell. Neurosci. 22, 227 (2003).
17. V.R. Martins, R. Linden, M.A. Prado, R. Walz, A.C. Sakamoto, I. Izquierdo and R.R. Brentani, "Cellular prion protein: on the road for functions", FEBS Lett. 512, 25 (2002).
18. B. Caughey, K. Neary, R. Buller, D. Ernst, L.L. Perry, B. Chesebro and R.E. Race, "Normal and scrapie-associated forms of prion protein differ in their sensitivities to phospholipase and proteases in intact neuroblastoma cells", J. Virol. 64, 1093 (1990).
19. D.C. Bolton, M.P. McKinley and S.B. Prusiner, "Identification of a protein that purifies with the scrapie prion", Science 218, 1309 (1982).
20. A. Alperovitch, I. Zerr, M. Pocchiari, E. Mitrova, J. de Pedro Cuesta, I. Hegyi, S. Collins, H. Kretzschmar, C. van Duijn and R.G. Will, "Codon 129 prion protein genotype and sporadic Creutzfeldt-Jakob disease", Lancet 353, 1673 (1999).
21. G.G. Kovacs, G. Trabattoni, J.A. Hainfellner, J.W. Ironside, R.S. Knight and H. Budka, "Mutations of the prion protein gene phenotypic spectrum", J. Neurol. 249, 1567 (2002).
22. M. Poulter, H.F. Baker, C.D. Frith, M. Leach, R. Lofthouse, R.M. Ridley, T. Shah, F. Owen, J. Collinge, J. Brown, J. Hardy, M.J. Mullan, A.E. Harding, C. Bennett, R. Doshi and T.J. Crow, "Inherited prion disease with 144 base pair gene insertion. 1. Genealogical and molecular studies", Brain 115, 675 (1992).
23. L.G. Goldfarb, R.B. Peterson, M. Tabaton, P. Brown, A.C. LeBlanc, P. Montagna, P. Cortelli, J. Julien, C. Vital, W.W. Pendelbury, M. Haltia, P.R. Wills, J.J. Hauw, P.E. McKeever, L. Monari, B. Schrank, G.D. Swergold, L. Autilio-Gambetti, D.C. Gajdusek, E. Lugaresi and P. Gambetti, "Fatal familial insomnia and familial Creutzfeld-Jakob disease: disease phenotype determined by a DNA polymorphism", Science 258, 806 (1992).
24. S.R. Dlouhy, K. Hsiao, M.R. Farlow, T. Foroud, P.M. Conneally, P. Johnson, S.B. Prusiner, M.E. Hodes and B. Ghetti, "Linkage of the Indiana kindred of Gerstmann-Straussler-Scheinker disease to the prion protein gene", Nat. Genet. 1, 64 (1992).
25. M. Pocchiari, M. Salvatore, F. Cutruzzolà, M. Genuardi, C.T. Allocatelli, C. Masullo, G. Macchi, G. Alema, S. Galgani, Y.G. Xi, R. Petraroli, M.C. Silvestrini and M. Brunori, "A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease", Ann. Neurol. 34, 802 (1993).
26. P. Brown, C.J. Gibbs, Jr, P. Rodgers-Johnson, D.M. Asher, M.P. Sulima, A. Bacote, L.G. Goldfarb and D.C. Gajdusek, "Human spongiform encephalopathy: the National Institutes of Health series of 300 cases of experimentally transmitted disease", Ann. Neurol. 35, 513 (1994).
27. J. Tateishi, P. Brown, T. Kitamoto, Z.M. Hoque, R. Roos, R. Wollman, L. Cervenakova and D.C. Gajdusek, "First experimental transmission of fatal familial insomnia", Nature 376, 434 (1995).
28. J. Collinge, M.S. Palmer, K.C. Sidle, I. Gowland, R. Medori, J. Ironside and P. Lantos, "Transmission of fatal familial insomnia to laboratory animals", Lancet 346, 569 (1995).
29. M. Brunori and B. Talbot, "A mechanism for prion replication", Nature 314, 676 (1985).
30. W. Swietnicki, M. Morillas, S.G. Chen, P. Gambetti and W.K. Surewicz, "Aggregation and fibrillization of the recombinant human prion protein huPrP90-231", Biochemistry 39, 424 (2000).
31. K. Kuwata, H. Li, H. Yamada, G. Legname, S.B. Prusiner, K. Akasaka and T.L. James, "Locally disordered conformer of the hamster prion protein: a crucial intermediate to PrPSc", Biochemistry 41, 12277 (2002).
32. J.H. Come, P.E. Fraser and P.T. Lansbury, Jr, "A kinetic model for amyloid formation in the prion diseases: importance of seeding", Proc. Natl. Acad. Sci. USA 90, 5959 (1993).
33. N. Stahl and S.B. Prusiner, "Prions and prion proteins", FASEB J. 5, 2799 (1991).
34. G. Zanusso, P.G. Righetti, S. Ferrari, L. Terrin, A. Farinazzo, F. Cardone, M. Pocchiari, N. Rizzuto and S. Monaco, "Two-dimensional mapping of three phenotype-associated isoforms of the prion protein in sporadic Creutzfeldt-Jakob disease", Electrophoresis 23, 347 (2002).
35. H. Diringer, M. Beekes, M. Özel, D. Simon, I. Queck, F. Cardone, M. Pocchiari and J.W. Ironside, "Highly infectious purified preparations of disease-specific amyloid of transmissible spongiform encephalopathies are not devoid of nucleic acids of viral size", Intervirology 40, 238 (1997).
36. N. Stahl, M.A. Baldwin, D.B. Teplow, L. Hood, B.W. Gibson, A.L. Burlingame and S.B. Prusiner, "Structural studies of the scrapie prion protein using mass spectrometry and amino acid sequencing", Biochemistry 32, 1991 (1993).
37. B. Ghetti, P. Piccardo, M.G. Spillantini, Y. Ichimiya, M. Porro, F. Perini, T. Kitamoto, J. Tateishi, C. Seiler, B. Frangione, O. Bugiani, G. Giaccone, F. Prelli, M. Goedert, S.R. Dlouhy and F. Tagliavini, "Vascular variant of prion protein cerebral amyloidosis with tau-positive neurofibrillary tangles: the phenotype of the stop codon 145 mutation in PRNP", Proc. Natl. Acad. Sci. USA 93, 744 (1996).
38. S.G. Chen, P. Parchi, P. Brown, S. Capellari, W. Zou, E.J. Cochran, C.L. Vnencak-Jones, J. Julien, C. Vital, J. Mikol, E. Lugaresi, L. Autilio-Gambetti and P. Gambetti, "Allelic origin of the abnormal prion protein isoform in familial prion diseases", Nat. Med. 3, 1009 (1997).
39. R. Gabizon, G. Telling, Z. Meiner, M. Halimi, I. Kahana and S.B. Prusiner, "Insoluble wild-type and protease-resistant mutant prion protein in brains of patients with inherited prion disease", Nat. Med. 2, 59 (1996).
40. T. Kitamoto, K. Yamaguchi, K. Doh-ura and J. Tateishi, "A prion protein missense variant is integrated in kuru plaque cores in patients with Gerstmann-Straussler syndrome", Neurology 41, 306 (1991).
41. P. Barbanti, G. Fabbrini, M. Salvatore, R. Petraroli, F. Cardone, B. Maras, M. Equestre, G. Macchi, G.L. Lenzi and M. Pocchiari, "Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Straussler-Sheinker disease (PrP-P102L mutation)", Neurology 47, 734 (1996).
42. P. Parchi, W. Zou, W. Wang, P. Brown, S. Capellari, B. Ghetti, N. Kopp, W.J. Schulz-Schaeffer, H.A. Kretzschmar, M.W. Head, J.W. Ironside, P. Gambetti and S.G. Chen, "Genetic influence on the structural variations of the abnormal prion protein", Proc. Natl. Acad. Sci. USA 97, 10168 (2000).
43. F. Tagliavini, F. Prelli, M. Porro, G. Rossi, G. Giaccone, M.R. Farlow, S.R. Dlouhy, B. Ghetti, O. Bugiani and B. Frangione, "Amyloid fibrils in Gerstmann-Straussler-Scheinker disease (Indiana and Swedish kindreds) express only PrP peptides encoded by the mutant allele", Cell 79, 695 (1994).
44. M.C. Silvestrini, F. Cardone, B. Maras, P. Pucci, D. Barra, M. Brunori and M. Pocchiari, "Identification of the prion protein allotypes which accumulate in the brain of sporadic and familial Creutzfeldt-Jakob disease patients", Nat. Med. 3, 521 (1997).
45. M. Barber, R.S. Bordoli, G.V. Garner, D.B. Gordon, R.D. Sedgwick, L.W. Tetler and A.N. Tyler, "Fast-atom-bombardment mass spectra of enkephalins", Biochem. J. 197, 401 (1981).
46. A. Benninghoven, F.G. Rudenauer and H.W. Werner, in Secondary Ion Mass Spectrometry: Basic Concepts, Instrumental Aspects, Applications, and Trends, Vol. 86, Chemical Analysis Series. John Wiley & Sons, New York, USA (1987).
47. M. Karas and F. Hillenkamp, "Laser desorption ionization of proteins with molecular masses exceeding 10,000 daltons", Anal. Chem. 60, 2299 (1988).
48. J.B. Fenn, M. Mann, C.K. Meng, S.F. Wongand and C.M. Whitehouse, "Electrospray ionization for mass spectrometry of large biomolecules", Science 246, 64 (1989).
49. M.A. Baldwin, "Mass spectrometric analysis of prion proteins", Adv. Protein Chem. 57, 29 (2001).
50. S.G. Chen, W. Zou, P. Parchi and P. Gambetti," PrP(Sc) typing by N-terminal sequencing and mass spectrometry", Arch. Virol. Suppl. 16, 209 (2000).
51. K. Qin, Y. Yang, P. Mastrangelo and D. Westaway, "Mapping Cu(II) binding sites in prion proteins by diethyl pyrocarbonate modification and matrix-assisted laser desorption ionization-time of flight (MALDI-TOF) mass spectrometric footprinting", J. Biol. Chem. 277, 1981 (2002).
52. R.M. Whittal, H.L. Ball, F.E. Cohen, A.L. Burlingame, S.B. Prusiner and M.A. Baldwin, "Copper binding to octarepeat peptides of the prion protein monitored by mass spectrometry", Protein Sci. 9, 332 (2000).
53. S. Sauer, D. Lechner, K. Berlin, C. Plancon, A. Heuermann, H. Lehrach and I.G. Gut, "Full flexibility genotyping of single nucleotide polymorphisms by the GOOD assay", Nucleic Acid Res. 28, E100 (2000).
54. A. Humeny, K. Schiebel, S. Seeber and C.M. Becker, "Identification of polymorphisms within the bovine prion protein gene (Prnp) by DNA sequencing and genotyping by MALDI-TOF-MS", Neurogenetics 4, 59 (2002).
55. S. Krebs, I. Medugorac, D. Seichter and M. Forster, "RNaseCut: a MALDI mass spectrometry-based method for SNP discovery", Nucleic Acid Res. 31, E37 (2003).
56. F. Tagliavini, P.M. Lievens, C. Tranchant, J.M. Warter, M. Mohr, G. Giaccone, F. Perini, G. Rossi, M. Salmona, P. Piccardo, B. Ghetti, R.C. Beavis, O. Bugiani, B. Frangione and F. Prelli, "A 7-kDa prion protein (PrP) fragment, an integral component of the PrP region required for infectivity, is the major amyloid protein in Gerstmann-Straussler-Scheinker disease A117V", J. Biol. Chem. 276, 6009 (2001).
57. K.P. Medzihradszky, J.M. Campbell, M.A. Baldwin, A.M. Falik, P. Juhasz, M.L. Vestal and A.L. Burlingame, "The characteristics of peptide collision-induced dissociation using a high-performance MALDI-TOF/TOF tandem mass spectrometer", Anal. Chem. 72, 552 (2000).
58. T.J. Griffin, S.P. Gygi, B. Rist, R. Aebersold, A. Loboda, A. Jilkine, W. Ens and K.G. Standing, "Quantitative proteomic analysis using a MALDI quadrupole time-of-flight mass spectrometer", Anal. Chem. 73, 978 (2001).
59. A. Shevchenko, S. Sunyaev, A. Loboda, A. Shevchenko, P. Bork, W. Ens and K.G. Standing, "Charting the proteomes of organisms with unsequenced genomes by MALDI-quadrupole time-of-flight mass spectrometry and BLAST homology searching", Anal. Chem. 73, 5066 (2001).
60. A.N. Krutchinsky, M. Kalkum and B.T. Chait, "Automatic identification of proteins with a MALDI-quadrupole ion trap mass spectrometer", Anal. Chem. 73, 5066 (2001).
61. A. Shevchenko, O.N. Jensen, A.V. Podtelejnikov, F. Sagliocco, M. Wilm, O. Vorm, P. Mortensen, A. Shevchenko, I.I. Boucherie and M. Mann, "Linking genome and proteome by mass spectrometry: large-scale identification of yeast proteins from two dimensional gels", Proc. Natl. Acad. Sci. USA 93, 14440 (1996).
62. S.D. Patterson and R.H. Aebersold, "Proteomics: the first decade and beyond", Nat. Genet. 33, 311 (2003).
63. M.E. Schininà, B. Maras, F. Cardone, C. Mancone, S. Principe, M.A. Di Bari, P. Parchi and M. Pocchiari, "Prion protein allotype profiling by mass spectrometry", Pure Appl. Chem. 75, 311 (2003).
64. B. Kuster and M. Mann, "Identifying proteins and post-translational modifications by mass spectrometry", Curr. Opin. Struct. Biol. 8, 393 (1998).
65. S.D. Patterson and R. Aebersold, "Mass spectrometric approaches for the identification of gel-separated proteins", Electrophoresis 16, 1791 (1995).
66. J.R. Yates, III, "Mass spectrometry and the age of the proteome", J. Mass Spectrom. 33, 1 (1998).
67. M.R. Wilkins, D.F. Hochstrasser, J.C. Sanchez, A. Bairoch and R.D. Appel, "Integrating two-dimensional gel databases using the Melanie II software", Trends Biochem. Sci. 21, 496 (1996).