A naturally occurring protective polymorphism G127V in human PrP has recently been found to greatly attenuate prion diseases, but the mechanism has remained elusive.
This work is beneficial for understanding the molecular mechanisms underlying the complete resistance of the G127V mutant to prion disease and for developing new therapeutics for prion disease.
In particular, it has been shown that the G127V mutation in this region of the human prion protein (huPrP) is protective against the spread of prion disease, but the mechanism of protection remains unknown.