KEGG   DISEASE: Prion disease
Entry
H00061                      Disease                                

Name
Prion disease;
Creutzfeldt-Jacob disease (CJD);
Gerstmann-Straussler disease (GSD);
Gerstmann-Straussler-Scheinker disease (GSSD);
Fatal familial insomnia (FFI)
Description
Prion diseases, also termed transmissible spongiform encephalopathies (TSEs), are a group of fatal neurodegenerative diseases that affect humans and a number of other animal species. The etiology of these diseases is thought to be associated with the conversion of a normal protein, PrPC, into an infectious, pathogenic form, PrPSc. The conversion is induced by prion infections (for example, variant Creutzfeldt-Jakob disease (vCJD), iatrogenic CJD, Kuru), mutations (familial CJD, Gerstmann-Straussler-Scheinker syndrome, fatal familial insomnia (FFI)) or unknown factors (sporadic CJD (sCJD)), and is thought to occur after PrPC has reached the plasma membrane or is re-internalized for degradation. The PrPSc form shows greater protease resistance than PrPC and accumulates in affected individuals, often in the form of extracellular plaques. Pathways that may lead to neuronal death comprise oxidative stress, regulated activation of complement, ubiquitin-proteasome and endosomal-lysosomal systems, synaptic alterations and dendritic atrophy, corticosteroid response, and endoplasmic reticulum stress. In addition, the conformational transition could lead to the lost of a beneficial activity of the natively folded protein, PrPC.
Category
Neurodegenerative disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H00061  Prion disease
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Human prion diseases
   8E00  Sporadic Creutzfeldt-Jakob Disease
    H00061  Prion disease
   8E01  Acquired prion disease
    H00061  Prion disease
   8E02  Genetic prion diseases
    H00061  Prion disease
   8E03  Variably protease sensitive prionopathy
    H00061  Prion disease
   8E0Y  Other specified human prion diseases
    H00061  Prion disease
Pathway
hsa05020  Prion disease
Network
nt06410  Calcium signaling
nt06412  Unfolded protein response (UPR) signaling
nt06415  PI3K signaling
nt06419  Microtubule-based transport
nt06420  Ubiquitin-proteasome system
nt06465  Prion disease
  Element
N01197  Scrapie conformation PrPSc to 26S proteasome-mediated protein degradation
N01198  Scrapie conformation PrPSc to PERK-ATF4 signaling pathway
N01199  Scrapie conformation PrPSc to mGluR5-Ca2+ -apoptotic pathway
N01200  Scrapie conformation PrPSc to transport of calcium
N01201  Scrapie conformation PrPSc to VGCC-Ca2+ -apoptotic pathway
N01202  Oligomeric conformation PrPc to anterograde axonal transport
N01203  Scrapie conformation PrPSc to Notch singling pathway
N01205  Scrapie conformation PrPSc to PRNP-PI3K-NOX2 signaling pathway
Gene
PRNP (mutation) [HSA:5621] [KO:K05634]
Comment
Affected region: cerebral cortex, thalamus, brain stem, cerebellum, etc.
Microscopic lesion: prion plaques
Other DBs
ICD-11: 8E00 8E01 8E02 8E03 8E0Y
ICD-10: A81.0
MeSH: D017096
OMIM: 123400 137440 600072 606688
Reference
  Authors
Aguzzi A, Polymenidou M.
  Title
Mammalian prion biology: one century of evolving concepts.
  Journal
Cell 116:313-27 (2004)
DOI:10.1016/S0092-8674(03)01031-6
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