PRNP gene

Wilson GA, Nakada SM, Bollinger TK et al (2009) Polymorphisms at the PRNP gene influence susceptibility to chronic wasting disease in two species of deer (Odocoileus Spp.) in western Canada. J Toxicol Environ Health A 72 1025-1029... 

Goldfarb LG, Brown P, McCombie WR et al (1991) Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene. Proc Natl Acad Sci USA 88 10926-10930... 

Krasemann S, Zerr I, Weber T, Poser S, Kretzschmar H, Hunsmann G, Bodemer W (1995) Prion disease associated with a novel nine octapeptide repeat insertion in the PRNP gene. Brain Res Mol Brain Res 34 173-176... 

One knows that this protein is encoded by a single exon, in humans called the PRNP gene. It is primarily found on the cell surface of neurons, glial cells, and cells of the lymphoreticular system, and it is anchored in these cell membranes via a glcosyl-phosphatidyl-inositol group. The protein is also detected at low concentrations in muscle cells and cells of the immune system. 

The cause of familial CJD is a germ line mutation in the PRNP gene. To date, 12 mutations are known that seem to be unambiguously associated with familial CJD. The assumption that there is a direct connection between familial CJD and mutations in the PRNP gene was supported experimentally by studies in mice transgenic mice carrying the mutations mentioned above show several essential aspects of a TSE. 

What triggers the appearance of the third form of CJD, sporadic CJD , which with one or two cases per million people, per year, worldwide constitutes the major proportion of all TSE in humans, remains unclear. In these cases no connection with mutations in the PRNP gene can be found. Somatic mutations in the PRNP gene have been suggested, although such speculation could not be confirmed experimentally as yet. 

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