BMJ  2006;332 (20 May), doi:10.1136/bmj.332.7551.0-b

A second prion protein genotype may be susceptible to vCJD

People with methionine homozygosity at codon 129 in the prion protein gene (PRNP) may not be the only subgroup to be susceptible to variant Creutzfelt-Jakob disease (vCJD). Ironside and colleagues (p 1186) analysed DNA from two appendix tissues which had tested positive for disease associated prion protein in a recent retrospective prevalence study. They found that both were homozygous for valine at codon 129 of PRNP. Individuals belonging to this subgroup may be susceptible to vCJD and have prolonged incubation periods, meaning they could act as asymptomatic carriers, the authors warn.

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Variant Creutzfeldt-Jakob disease: prion protein genotype analysis of positive appendix tissue samples from a retrospective prevalence study

James W Ironside, Matthew T Bishop, Kelly Connolly, Doha Hegazy, Suzanne Lowrie, Margaret Le Grice, Diane L Ritchie, Linda M McCardle, and David A Hilton
BMJ 2006 332: 1186-1188. [Abstract] [Full Text] [PDF]

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