Mutations Alter RNA-Mediated Conversion of Human Prions

Prion diseases are
connected with self-replication and self-propagation
of misfolded proteins. The rate-limiting factor is the formation of
the initial seed. We have recently studied the early stages in the
conversion between functional PrPC and the infectious scrapie
PrPSC form, triggered by the binding of RNA. Here, we study
how this process is modulated by the prion sequence. We focus on residues
129 and 178, which are connected to the hereditary neurodegenerative
disease fatal familial insomnia.