A novel three extra-repeat insertion in the prion protein gene (PRNP) in a patient with Creutzfeldt-Jakob disease

Prion Proteins with Insertion Mutations Have Altered N-terminal Conformation and Increased Ligand Binding Activity and Are More Susceptible to Oxidative Attack

“…Subsequently, another family with the identical mutation was identified in Europe (13). In this study, we report studies comparing the conformation of insertion mutant recombinant protein with wild type recombinant protein using a panel of well characterized anti-PrP monoclonal antibodies.…”

Frequency distribution of PRNP polymorphisms in the Pakistani population

“…The octapeptide repeats region of the prion protein has been shown to play neuroprotective role and is involved in copper metabolism (Mitteregger et al, 2007). Insertions of 2-13 octapetide repeats are associated with f/gCJD (Beck et al, 2010;Capellari et al, 1997;Grasbon-Frodl et al, 2004;Nishida et al, 2005;Weissmann, 1999;Yu et al, 2004). The insertion of extra OPRs increases the propensity of PrP C for oligomerization and the rate of protease-resistant prion protein formation (Moore et al, 2006;Yu et al, 2007).…”

“…The octapeptide repeats region spans amino acids 51 to 91 of the prion protein and is comprised of 5 repeats, a nonapeptide PQGGGGWGQ and four tandem octapeptide repeats (PHGGGWGQ) 4 (Kretzschmar et al, 1986). Insertions of 2-13 octapetide repeats and a 2-OPRD are associated with f/gCJD (Beck et al, 2010;Grasbon-Frodl et al, 2004;Nishida et al, 2005;Weissmann, 1999;Yu et al, 2004).…”

Report about Four Novel Mutations in the Prion Protein Gene

“…Standard measurements of CSF like cell count, protein, oligoclonal bands and antibodies against neurotropic viruses as well as polymerase chain reaction (PCR) were made according to standard procedures. Electro-encephalograms (EEGs) were classified by an experienced neurophysiologist after the criteria established by Steinhoff et al [16] with detection of periodic sharp wave complexes as the typical picture of CJD and MRI results were assessed by an experienced neuroradiologist with regard to hyperintensities in sensitive sequences (diffusion-weighted imaging, fluid-attenuated inversion recovery, T2-weighted imaging) in basal ganglia and/or two cortical areas (temporal, occipital, parietal or insular) [17,18]. To assign the results to definite, possible or probable CJD, the diagnostic criteria of 2001 were used [15] as the examined cases were classified before 2009 when a modification was established [17].…”