Elk with a long incubation prion disease phenotype have a unique PrPd profile.

Abstract

The transmissible spongiform encephalopathies (TSEs) invariably result in fatal neurodegeneration and accumulation of PrP, an abnormal form of the host prion protein PrP, encoded by the PRNP gene. A naturally occurring polymorphism (methionine/valine) at PRNP codon 129 is associated with variation in relative disease susceptibility, incubation time, clinical presentation, neuropathology, and/or PrP biochemical characteristics in a range of human TSEs. A methionine/leucine polymorphism at the corresponding site in the Rocky Mountain elk PRNP gene is associated with variation in relative susceptibility and incubation time in the cervid TSE chronic wasting disease. We now report that elk lacking the predisposing 132-methionine allele develop chronic wasting disease after a long incubation period and display a novel PrP folding pattern.

• Authors: Katherine I O'Rourke, Terry R Spraker, Dongyue Zhuang, Justin J Greenlee, Thomas E Gidlewski, Amir N Hamir
• Journal: Neuroreport (Neuroreport) Vol. 18 Issue 18 Pg. 1935-8 (Dec 03 2007) ISSN: 0959-4965 [Print] England
• PMID: 18007190 (Publication Type: Journal Article, Research Support, U.S. Gov't, Non-P.H.S.)

Chemical References

• PrPC Proteins

Topics

• Amino Acid Substitution (genetics)
• Animals
• Brain (metabolism, physiopathology)
• Deer (genetics, metabolism)
• Gene Frequency (genetics)
• Genetic Predisposition to Disease (genetics)
• Genotype
• Phenotype
• Polymorphism, Genetic (genetics)
• PrPC Proteins (chemistry, genetics, metabolism)
• Protein Folding
• Wasting Disease, Chronic (genetics, metabolism, physiopathology)