| H00061 | |
| H番号 | 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 疾患パスウェイ hsa05020 プリオン病 |
| ネットワーク | nt06410(H00061) Calcium signaling nt06412(H00061) Unfolded protein response (UPR) signaling nt06415(H00061) PI3K signaling nt06419(H00061) Microtubule-based transport nt06420(H00061) Ubiquitin-proteasome system nt06465 Prion disease |
| 病因遺伝子 | PRNP (mutation) [HSA:5621] [KO:K05634] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| 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 | PMID:14744440 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 |