KEGG   DISEASE: プリオン病
エントリ  
H00061                                                             
名称    
プリオン病
概要    
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.
カテゴリ  
神経変性疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 08 神経系の疾患
  ヒト・プリオン病
   8E00  孤発型クロイツフェルト・ヤコブ病
    H00061  プリオン病
   8E01  獲得性プリオン病
    H00061  プリオン病
   8E02  遺伝性プリオン病
    H00061  プリオン病
   8E03  可変プロテアーゼ感受性プリオン病
    H00061  プリオン病
   8E0Y  その他の明示されたヒト・プリオン病
    H00061  プリオン病
パスウェイに基づく疾患分類 [BR:jp08402]
 細胞プロセス
  nt06534  小胞体ストレス応答
   H00061  プリオン病
感染症法による感染症分類 [jp08406.html]
 H00061
指定難病 [jp08407.html]
 H00061
疾患パスウェイ
hsa05020  プリオン病
ネットワーク
nt06465 Prion disease
nt06466 Pathways of neurodegeneration
nt06534 Unfolded protein response
病因遺伝子 
PRNP (mutation) [HSA:5621] [KO:K05634]
コメント  
Affected region: cerebral cortex, thalamus, brain stem, cerebellum, etc.
Microscopic lesion: prion plaques
リンク   
ICD-11: 8E00 8E01 8E02 8E03 8E0Y
ICD-10: A81.0
MeSH: D017096
OMIM: 123400 137440 600072 606688
文献    
  著者
Aguzzi A, Polymenidou M.
  タイトル
Mammalian prion biology: one century of evolving concepts.
  雑誌
Cell 116:313-27 (2004)
DOI:10.1016/S0092-8674(03)01031-6
LinkDB    

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