NR AGNM
AU Kitamoto,T.; Iizuka,R.; Tateishi,J.
TI An amber mutation of prion protein in Gerstmann-Sträussler syndrome with mutant PrP plaques
QU Biochemical and Biophysical Research Communications 1993 Apr 30; 192(2): 525-31
PT journal article
AB We found an amber mutation in the open reading frame of the prion protein (PrP) gene. The codon 145 mutation (tyrosine to stop) was recognized on a PrP allele of a patient with Alzheimer-type clinical course. Pathologic examination revealed many amyloid plaques and neurofibrillary changes. However, the amyloid plaques in this patient were not composed of beta/A4 protein, but of PrP. Both wild and mutant PrP alleles were detected in the cerebral mRNA; however, only C-terminal truncated PrP was detected in the kuru plaques. We herein present evidence that only mutant PrP aggregates to make kuru plaques in the central nervous system.
IN Ein Patient mit dem Gerstmann-Sträussler-Syndrom besaß ein normales und ein mutiertes Allel für das Prionprotein. Die "amber"-Mutation wandelte das Codon für Tyrosin an der Position 145 in ein Stoppcodon um und bewirkt die Synthese verkürzter Prionproteine. In den krankheitstypischen amyloiden Aggregaten wurden nur die carboxyterminal verkürzten Prionproteine gefunden.
MH Adult; Amino Acid Sequence; Base Sequence; Case Report; Codon; DNA; DNA Mutational Analysis; Female; Gerstmann-Sträussler-Scheinker Disease/*genetics/pathology; Human; Immunohistochemistry; Molecular Sequence Data; *Mutation; Nerve Tissue Proteins/*genetics; Open Reading Frames; PrPsc Proteins; Prions/*genetics/metabolism; RNA, Messenger/metabolism; Support, Non-U.S. Gov't
AD Department of Neuropathology, Kyushu University, Fukuoka, Japan.
SP englisch
PO USA