Kitamoto T, Iizuka R, Tateishi J
Department of Neuropathology, Kyushu University, Fukuoka, Japan.
Biochem Biophys Res Commun. 1993 Apr 30;192(2):525-31. doi: 10.1006/bbrc.1993.1447.
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.
我们在朊病毒蛋白（PrP）基因的开放阅读框中发现了一个琥珀突变。在一名具有阿尔茨海默病临床病程的患者的PrP等位基因上识别出密码子145突变（酪氨酸突变为终止密码子）。病理检查显示有许多淀粉样斑块和神经原纤维变化。然而，该患者的淀粉样斑块并非由β/A4蛋白组成，而是由PrP组成。在大脑mRNA中检测到野生型和突变型PrP等位基因；然而，在库鲁病斑块中仅检测到C端截短的PrP。我们在此提供证据表明，只有突变型PrP聚集形成中枢神经系统中的库鲁病斑块。
