Table 1 The prion diseases
|
Disease (abbreviation) |
Natural host |
Prion |
Pathogenic PrP Isoforms |
|
Scrapie |
sheep & goats |
Scrapie prion |
OvPrPSc |
|
Transmissible mink encephalopathy (TME) |
mink |
TME prion |
MkPrPSc |
|
Chronic wasting disease (CWD) |
mule deer & elk |
CWD prion |
MDePrPSc |
|
Bovine spongiform encephalopathy (BSE) |
cattle |
BSE prion |
BoPrPSc |
|
Feline spongiform encephalopathy (FSE) |
cats |
FSE prion |
FePrPSc |
|
Exotic ungulate encephalopathy (EUE) |
nyala & greater kudu |
EUE prion |
UngPrPSc |
|
Kuru |
humans |
Kuru prion |
HuPrPSc |
|
Creutzfeldt-Jakob disease (CJD) |
humans |
CJD prion |
HuPrPSc |
|
Gerstmann-Sträussler Sheinker syndrome (GSS) |
humans |
GSS prion |
HuPrPSc |
|
Fatal familial insomnia (FF1) |
humans |
FF1 prion |
HuPrPSc |
Table 2 Glossary of prion terminology
|
Term |
Description |
|
Prion |
A proteinaceous infectious particle that lacks nucleic acid. Prions are composed largely, if not entirely, of PrPSc molecules. |
|
PrPSc |
Abnormal, pathogenic isoform of the prion protein that causes sickness. This protein is the only identifiable macromolecule in purified preparations of prions. |
|
PrPC |
Cellular isoform of the prion protein. |
|
PrP 27-30 |
Digestion of PrPSc with proteinase K generates PrP 27-30 by hydrolysis of the N-terminus |
|
PRNP |
Human PrP gene located on chromosome 20. |
|
Prnp |
Mouse PrP gene located on syntenic chromosome 2. Prnp controls the length of the prion incubation time and is congruent with the incubation time genes Sinc and Prn-i. PrP-deficient (Prnp°/°) mice are resistant to prions. |
|
PrP amyloid |
Fibril of PrP fragments derived from PrpSc by proteolysis. Plaques containing PrP amyloid are found in the brains of some mammals with prion disease. |
|
Prion rod |
An amyloid polymer composed of Prp 27-30 molecules. Created by detergent extraction and limited proteolysis of PrPSc. |
|
Protein X |
A hypothetical macromolecule that is thought to act like a molecular chaperone in facilitating the conversion of PrPC into PrPSc. |
Table 3 Examples of human PrP gene mutations found in the inherited prion diseases
|
Inherited prion disease |
PrP gene mutation |
|
|
Gerstinann-Straussler-Scheinker disease |
PrP P1O2L* |
|
|
Gerstmann-Straussler-Scheinker disease |
PrP AI17V |
|
|
Familial Creutzfeldt-Jakob disease |
PrP D178N, V129 |
|
|
Fatal familial insomnia |
PrP D178N, M129* |
|
|
Gerstmann-Straussler-Scheinker disease |
PrP F198S* |
|
|
Familial Creutzfeldt-Jakob disease |
PrP E2OOK* |
|
|
Gerstmann-Straussler-Scheinker disease |
PrP Q217R |
|
|
Familial Creutzfeldt-Jakob disease |
PrP octarepeat insert* |
|
*; signifies genetic linkage between the mutation and the inherited prion disease.
|
|