title: Molecular biology and pathology of scrapie and the prion diseases of humans.
abstract: Scrapie and bovine spongiform encephalopathy of animals and Creutzfeldt-Jakob and Gerstmann-Sträussler-Scheinker diseases of humans are transmissible and genetic neurodegenerative diseases caused by prions. Infectious prion particles are composed largely, if not entirely, of an abnormal isoform of the prion protein which is encoded by a chromosomal gene. An as yet unidentified post-translational process converts the cellular prion protein into an abnormal isoform. Scrapie neuropathology, incubation times, and prion synthesis in transgenic mice are controlled by the prion protein gene. Point mutations in the prion protein genes of animals and humans are genetically linked to development of neurodegeneration. Transgenic mice expressing mutant prion proteins spontaneously develop neurologic dysfunction and spongiform neuropathology. Studies of prion diseases may advance investigations of other neurodegenerative disorders and of how neurons differentiate, function for decades and grow senescent.
authors.affiliation: Department of Neurology, University of California, San Francisco 94143.
authors.forename: S B
authors.initials: SB
authors.lastname: Prusiner
authors.forename: S J
authors.initials: SJ
authors.lastname: DeArmond
mesh_terms: D000818:Animals; D000835:Animals, Wild; D002417:Cattle; D007562:Creutzfeldt-Jakob Syndrome / Q000378:metabolism / Q000473:pathology; D004198:Disease Susceptibility; D016643:Encephalopathy, Bovine Spongiform / Q000378:metabolism / Q000473:pathology; D016098:Gerstmann-Straussler-Scheinker Disease / Q000378:metabolism / Q000473:pathology; D015511:Goat Diseases / Q000378:metabolism / Q000473:pathology; D006041:Goats; D006801:Humans; D007729:Kuru / Q000378:metabolism / Q000473:pathology; D051379:Mice; D008822:Mice, Transgenic; D017354:Point Mutation; D017096:Prion Diseases / Q000378:metabolism* / Q000473:pathology / Q000662:veterinary; D011328:Prions / Q000145:classification / Q000235:genetics / Q000378:metabolism; D012608:Scrapie / Q000378:metabolism* / Q000473:pathology; D012756:Sheep; D013045:Species Specificity
chemical_list: D011328:Prions