Human prion protein disease link

Gerstmann-Straussler-Sclieinker (GSS) syndrome is a prion disease linked to germ line mutations or insertions in the human prion protein gene resulting in a neurodegenerative brain disorder. 

Rossetti G, Giachin G, Legname G, Carloni P (2010) Structural facets of disease-linked human prion protein mutants a molecular dynamic study. Proteins Struct Funct Bioinform, doi 10.1002/prot.22834... 

The fact that all forms of inherited human prion diseases known so far are linked with dominant mutations in the gene encoding human PrP has been used as a strong argument in favor of the protein-only hypothesis, as the infectious prion agent spontaneously develops in affected individuals (for reviews, see Prusiner, 1997 Prusiner et al,... 

Prion and scrapie diseases are linked with the conformational transition of normally monomeric a-helical cellular prion protein, PrP, to a B-sheet-rich pathogenic form, PrP , which is prone to aggregation. A similar conformational transition of the normal cellular form of a-helical amyloid peptide (aAP (1-40)) into the disease-specific largely B-sheet form of amyloid peptide (BAP (1-40)) occurs in Alzheimer s disease, which results in amyloid deposits (Monaco et al., 2006). So far more than 19 different mutations in the human PrP gene have been linked with inherited prion diseases (Monaco et al., 2006). However, the molecular event triggering the spontaneous conversion of wild-type and... 

Another group of organisms that straddle the life - non-life border are the prions. These have come to public attention recently because of their controversial association with Creutzfeld-Jacob disease (CJD), a fatal infection of the brain in humans, so-called scrapie in sheep, and bovine spongiform encephalopathy (BSE), a related disease in cattle, as discussed by Heaphy (2004) and in Prusiner (2004). Several other neurological diseases in animals and humans are also linked with prions which are proteinaceous particles and thus earbon-based. Unlike other disease-causing organisms, prions do not contain nucleic acids and consist of modified forms of normal cellular protein. They ean be ineubated in brain tissue for long periods before they have an effeet whieh involves impairment of tissue function and ultimately impairment of human/animal funetion prior to death. How prions enter the body and infeet brain tissue has not yet been aseertained in detail. 

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