4. In hereditary forms of prion diseases, a genetic change (a mutation represented by the red dot) in one of the two genes encoding PrPc, may result in a slightly altered structure of the PrPc-protein. The mutation makes it easier for PrPc to change its conformation into PrPSc, initating a chain reaction that will result in the accumulation of a large number of PrPSc molecules. The filamentous aggregates that are gradually formed may contain both altered normal (unmutated) and mutated PrPSc.



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