An amber mutation of prion protein in Gerstmann-Sträussler syndrome with mutant PrP plaques
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Published on: July 16, 2008
T Kitamoto1, R Iizuka, J Tateishi
1Department of Neuropathology, Kyushu University, Fukuoka, Japan.
Abstract:
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.
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