[A trend of molecular genetics on prion diseases and prion protein].
Infectious amyloid filaments designated as prion rods or scrapie associated fibrils (SAF) present in brain tissues affected by transmissible spongiform encephalopathies such as Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker disease (GSS) and kuru of humans, and scrapie of sheep. A hydrophobic glycoprotein, PrPSc is a major component of SAF, and is known to be associated with the infectivity of these diseases. Both PrPSc and the normal isoform of this glycoprotein, PrPC are encoded by a single host gene, PrP gene, and the conversion of PrPC to PrPSc is a posttranslational event. Several mutations on the PrP gene are associated with variations of the phenotype and the occurrence in familial CJD and GSS.
Muramatsu
Y
Y
Department of Veterinary Public Health, School of Veterinary Medicine, Obihiro University of Agriculture and Veterinary Medicine.
Shinagawa
M
M
D000818:Animals; D003062:Codon; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics / Q000473:pathology; D016098:Gerstmann-Straussler-Scheinker Disease / Q000235:genetics / Q000473:pathology; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics; D009154:Mutation; D017096:Prion Diseases / Q000235:genetics*; D011328:Prions / Q000235:genetics*; D012756:Sheep
D003062:Codon; D008562:Membrane Glycoproteins; D011328:Prions