Skip Navigation


Brain Advance Access originally published online on January 16, 2006
Brain 2006 129(3):676-685; doi:10.1093/brain/awl013
This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow All Versions of this Article:
129/3/676    most recent
awl013v1
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (12)
Right arrowRequest Permissions
Right arrow Disclaimer
Google Scholar
Right arrow Articles by Hill, A. F.
Right arrow Articles by Collinge, J.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Hill, A. F.
Right arrow Articles by Collinge, J.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© The Author (2006). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Distinct glycoform ratios of protease resistant prion protein associated with PRNP point mutations

Andrew F. Hill1, Susan Joiner, Jonathan A. Beck, Tracy A. Campbell, Andrew Dickinson, Mark Poulter, Jonathan D. F. Wadsworth and John Collinge

MRC Prion Unit and Department of Neurodegenerative Disease, Institute of Neurology, University College London, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK 1 Present addresses: Department of Biochemistry & Molecular Biology, Bio21 Molecular Science and Biotechnology Institute and Department of Pathology, University of Melbourne, Parkville, Victoria 3010, Australia

Correspondence to: Professor John Collinge, MRC Prion Unit and Department of Neurodegenerative Disease, Institute of Neurology, University College London, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK E-mail: j.collinge{at}prion.ucl.ac.uk

Inherited prion diseases are neurodegenerative disorders caused by autosomal dominant mutations in the human prion protein gene (PRNP). Kindred with inherited prion disease can show remarkable phenotypic variability that has yet to be explained. Here we report analysis of protease resistant disease-related prion protein (PrPSc) isoforms from a range of inherited prion disease cases (point mutations P102L, D178N, E200K and 2-, 4- and 6-octapeptide repeat insertions) and show that the glycoform ratios of PrPSc associated with PRNP point mutations are distinct from those observed in sporadic, iatrogenic and variant Creutzfeldt–Jakob disease. Patients with the same PRNP mutation can also propagate PrPSc with distinct conformations. These data extend the spectrum of recognized PrPSc types seen in human prion diseases and provide further insight into the generation of diverse clinicopathological phenotypes associated with inherited prion disease.

Key Words: Creutzfeldt-Jakob disease; prion disease; prion protein; fatal familial insomnia

Abbreviations: CJD = Creutzfeldt–Jakob disease; FFI = fatal familial insomnia; GSS = Gerstmann–Straüssler–Scheinker syndrome; MHs = methionine homozygotes; vCJD = variant CJD

Received September 5, 2005. Revised November 27, 2005. Accepted December 22, 2005.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Physiol. Rev.Home page
A. Aguzzi and A. M. Calella
Prions: Protein Aggregation and Infectious Diseases
Physiol Rev, October 1, 2009; 89(4): 1105 - 1152.
[Abstract] [Full Text] [PDF]

Home page
 Protein Eng Des SelHome page
M. W. van der Kamp and V. Daggett
The consequences of pathogenic mutations to the human prion protein
Protein Eng. Des. Sel., August 1, 2009; 22(8): 461 - 468.
[Abstract] [Full Text] [PDF]

Home page
 J. Gen. Virol.Home page
E. A. Asante, I. Gowland, A. Grimshaw, J. M. Linehan, M. Smidak, R. Houghton, O. Osiguwa, A. Tomlinson, S. Joiner, S. Brandner, et al.
Absence of spontaneous disease and comparative prion susceptibility of transgenic mice expressing mutant human prion proteins
J. Gen. Virol., March 1, 2009; 90(3): 546 - 558.
[Abstract] [Full Text] [PDF]

Home page
 Phil Trans R Soc BHome page
J. D.F Wadsworth, S. Joiner, J. M Linehan, E. A Asante, S. Brandner, and J. Collinge
The origin of the prion agent of kuru: molecular and biological strain typing
Phil Trans R Soc B, November 27, 2008; 363(1510): 3747 - 3753.
[Abstract] [Full Text] [PDF]

Home page
 Phil Trans R Soc BHome page
S. Brandner, J. Whitfield, K. Boone, A. Puwa, C. O'Malley, J. M Linehan, S. Joiner, F. Scaravilli, I. Calder, M. P. Alpers, et al.
Central and peripheral pathology of kuru: pathological analysis of a recent case and comparison with other forms of human prion disease
Phil Trans R Soc B, November 27, 2008; 363(1510): 3755 - 3763.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
T. E. F. Webb, M. Poulter, J. Beck, J. Uphill, G. Adamson, T. Campbell, J. Linehan, C. Powell, S. Brandner, S. Pal, et al.
Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series
Brain, October 1, 2008; 131(10): 2632 - 2646.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
J. D. F. Wadsworth, S. Joiner, J. M. Linehan, M. Desbruslais, K. Fox, S. Cooper, S. Cronier, E. A. Asante, S. Mead, S. Brandner, et al.
Kuru prions and sporadic Creutzfeldt-Jakob disease prions have equivalent transmission properties in transgenic and wild-type mice
PNAS, March 11, 2008; 105(10): 3885 - 3890.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
A. Aguzzi
Unraveling prion strains with cell biology and organic chemistry
PNAS, January 8, 2008; 105(1): 11 - 12.
[Full Text] [PDF]

Home page
 Arch NeurolHome page
S. Mead, S. Joiner, M. Desbruslais, J. A. Beck, M. O'Donoghue, P. Lantos, J. D. F. Wadsworth, and J. Collinge
Creutzfeldt-Jakob Disease, Prion Protein Gene Codon 129VV, and a Novel PrPSc Type in a Young British Woman
Arch Neurol, December 1, 2007; 64(12): 1780 - 1784.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
S. Mead, T. E. F. Webb, T. A. Campbell, J. Beck, J. M. Linehan, S. Rutherfoord, S. Joiner, J. D. F. Wadsworth, J. Heckmann, S. Wroe, et al.
Inherited prion disease with 5-OPRI: Phenotype modification by repeat length and codon 129
Neurology, August 21, 2007; 69(8): 730 - 738.
[Abstract] [Full Text] [PDF]

Home page
 Mol. Cell. Biol.Home page
E. M. H. Tank, D. A. Harris, A. A. Desai, and H. L. True
Prion Protein Repeat Expansion Results in Increased Aggregation and Reveals Phenotypic Variability
Mol. Cell. Biol., August 1, 2007; 27(15): 5445 - 5455.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
I. Cali, R. Castellani, J. Yuan, A. Al-Shekhlee, M. L. Cohen, X. Xiao, F. J. Moleres, P. Parchi, W.-Q. Zou, and P. Gambetti
Classification of sporadic Creutzfeldt-Jakob disease revisited.
Brain, September 1, 2006; 129(Pt 9): 2266 - 2277.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
S. Mead, M. Poulter, J. Beck, T. E. F. Webb, T. A. Campbell, J. M. Linehan, M. Desbruslais, S. Joiner, J. D. F. Wadsworth, A. King, et al.
Inherited prion disease with six octapeptide repeat insertional mutation--molecular analysis of phenotypic heterogeneity.
Brain, September 1, 2006; 129(Pt 9): 2297 - 2317.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
J. D. F. Wadsworth, S. Joiner, J. M. Linehan, S. Cooper, C. Powell, G. Mallinson, J. Buckell, I. Gowland, E. A. Asante, H. Budka, et al.
Phenotypic heterogeneity in inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and mutant prion protein
Brain, June 1, 2006; 129(6): 1557 - 1569.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.