Posts Tagged ‘prion’

A naturally occurring variant of the human prion protein completely prevents prion disease : Nature : Nature Publishing Group

August 14, 2015

Natural variant of the…#prion protein [G127V] completely
prevents…disease Under pos. selection for kuru afflicted

A novel PrP variant, G127V, was under positive evolutionary selection during the epidemic of kuru—an acquired prion disease epidemic of the Fore population in Papua New Guinea—and appeared to provide strong protection against disease in the heterozygous state2. Here we have investigated the protective role of this variant and its interaction with the common, worldwide M129V PrP polymorphism. V127 was seen exclusively on a M129 PRNP allele. We demonstrate that transgenic mice expressing both variant and wild-type human PrP are completely resistant to both kuru…”