A cluster of familial Creutzfeldt-Jakob disease mutations recapitulate conserved residues in Doppel: A case of molecular mimicry?

Peter Mastrangelo, Louise Serpell, Tim Dafforn, Arthur Lesk, Paul Fraser, David Westaway

Research output: Contribution to journalArticlepeer-review

6 Scopus citations

Abstract

Intrachromosomal deletions linking Dpl expression to the PrP promoter produce cerebellar degeneration that can be abrogated by the introduction of wild-type PrP transgenes. Since Dpl-like truncated forms of PrP are neuropathogenic in mice and likewise counterbalanced by expression of PrPC we asked whether naturally occurring mutant forms of human PrP have Dpl-like attributes. Five PRNP missense mutations causing familial Creutzfeldt-Jakob disease (F-CJD) map to a helical region found in both PrPC and Dpl and result in amino acids identical to conserved residues in Dpl. These F-CJD alleles may cause mutant PrP to become a weak mimetic of Dpl structure and/or function.

Original languageEnglish (US)
Pages (from-to)21-26
Number of pages6
JournalFEBS Letters
Volume532
Issue number1-2
DOIs
StatePublished - Dec 4 2002

All Science Journal Classification (ASJC) codes

  • Biophysics
  • Structural Biology
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Cell Biology

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