NR AEGR
AU Furukawa,H.; Doh-ura,K.; Kikuchi,H.; Tateishi,J.; Iwaki,T.
TI A comparative study of abnormal prion protein isoforms between Gerstmann-Sträussler-Scheinker syndrome and Creutzfeldt-Jakob disease
QU Journal of the Neurological Sciences 1998 Jun 11; 158(1): 71-5
PT journal article
AB Proteinase K (PK)-resistant prion protein (PrPres) isoforms were examined in three patients with Gerstmann-Sträussler-Scheinker syndrome (GSS) carrying proline-to-leucine mutation at codon 102 in prion protein gene (PRNP), and in nine patients with sporadic Creutzfeldt-Jakob disease (CJD). PrPres isoform termed 'type A', which showed a more prominent band of highly glycosylated form than both a lower glycosylated band and an unglycosylated band in immunoblotting, was exclusively found in the GSS patients examined. In eight of nine CJD patients, electrophoretic mobilities of three PrPres glycoforms were similar to type A, but the ratio of these glycoforms termed 'type B' was distinct from that of type A. On the other hand, one sporadic CJD case with wild-type PRNP had a different PrPres isoform termed type C, which showed higher molecular shift of each of the PrPres glycoforms. There was no significant relationships among genotypes, clinical features and PrPres isoforms in sporadic CJD cases. Our finding suggests that type A PrPres isoform is specifically found in the patients with GSS carrying codon 102 mutation, and there are at least two different PrPres isoforms in the patients with sporadic CJD.
MH Amyloid/*genetics; Codon/genetics; Comparative Study; Creutzfeldt-Jakob Syndrome/*metabolism/pathology; Electrophoresis, Polyacrylamide Gel; Gerstmann-Sträussler-Scheinker Disease/*metabolism/pathology; Gliosis/metabolism/pathology; Glycosylation; Human; Point Mutation; Prions/*analysis/chemistry/genetics; Protein Precursors/*genetics; Protein Processing, Post-Translational; Support, Non-U.S. Gov't
AD Department of Neuropathology, Neurological Institute, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
SP englisch
PO Niederlande