Pilot study for the evaluation of the polymorphism of the coding PNRP gene of prionica protein

Prion diseases are due to the abnormal accumulation of a variant of the normal PrPc protein. This protein, whose function is not yet known, is encoded by exon 2 of the PRNP gene, located on the short arm of chromosome 20. The disease is caused by a change in the conformation of the normal protein, catalyzed in turn by the prion protein. This induces the formation of protein conglomerates resistant to degradation, responsible for the neuronal damage and for the lack of protein.