Article
A naturally occurring variant of the human prion protein completely prevents prion disease.
Nature - 25 Jun 2015
Asante Emmanuel A, Smidak Michelle, Grimshaw Andrew, Houghton Richard, Tomlinson Andrew, Jeelani Asif, Jakubcova Tatiana, Hamdan Shyma, Richard-Londt Angela, Linehan Jacqueline M, Brandner Sebastian, Alpers Michael, Whitfield Jerome, Mead Simon, Wadsworth Jonathan D F, Collinge John
Abstract excerpt
Mammalian prions, transmissible agents causing lethal neurodegenerative diseases, are composed of assemblies of misfolded cellular prion protein (PrP). 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 state....
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