Polymorphic microsatellite sites in the PRNP region point to excess of homozygotes in Creutzfeldt–Jakob disease patients

Geldermann, H.; Bartenschlager, H.; Preuß, Siegfried; Melchinger-Wild, E.; Herzog, Katja; Zerr, Inga

doi:10.1016/j.gene.2006.06.012

Cited by 4 publications

(2 citation statements)

References 26 publications

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“…The SNP at codon 129 of PRNP has been considered a genetic risk factor for human prion diseases (34, 37). This SNP was strongly associated with sporadic CJD in Korean, Japanese, Dutch, British, Spanish, French and German populations (Table 3) (37, 38, 43, 55, 56, 57, 58, 59, 60, 61, 62). Heterozygosity at codon 129 is protective against sporadic, iatrogenic or variant CJD in Europeans and East Asians (35, 37, 38, 58, 59, 60, 61, 62, 63, 64, 65).…”

Section: Prnp Polymorphismsmentioning

confidence: 99%

Genetic Studies in Human Prion Diseases

Jeong

Kim

2014

J Korean Med Sci

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Human prion diseases are fatal neurodegenerative disorders that are characterized by spongiform changes, astrogliosis, and the accumulation of an abnormal prion protein (PrPSc). Approximately 10%-15% of human prion diseases are familial variants that are caused by pathogenic mutations in the prion protein gene (PRNP). Point mutations or the insertions of one or more copies of a 24 bp repeat are associated with familial human prion diseases including familial Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome, and fatal familial insomnia. These mutations vary significantly in frequency between countries. Here, we compare the frequency of PRNP mutations between European countries and East Asians. Associations between single nucleotide polymorphisms (SNPs) of several candidate genes including PRNP and CJD have been reported. The SNP of PRNP at codon 129 has been shown to be associated with sporadic, iatrogenic, and variant CJD. The SNPs of several genes other than PRNP have been showed contradictory results. Case-control studies and genome-wide association studies have also been performed to identify candidate genes correlated with variant and/or sporadic CJD. This review provides a general overview of the genetic mutations and polymorphisms that have been analyzed in association with human prion diseases to date.Graphical Abstract

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Section: Prnp Polymorphismsmentioning

confidence: 99%

Genetic Studies in Human Prion Diseases

Jeong

Kim

2014

J Korean Med Sci

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“…This molecular involvement of M129V in these processes explains its remarkable correlation with susceptibility to and molecular and clinicopathological phenotypes of human prion disease (Asante et al, 2006;Wadsworth et al, 2004). While heterozygosity at PRNP codons protects humans against prion disease by inhibiting homologous protein-protein interactions (Geldermann et al, 2006;Palmer et al, 1991), alteration in the PRNP expression is also associated with the risk of occurring prion diseases (Bratosiewicz-Wasik et al, 2007;Concepcion and Padlan, 2005). Due to massive impact of PRNP on prion diseases, PRNP variation has extensively been studied both in animals (Babar et al, 2009(Babar et al, , 2008a(Babar et al, , 2008bGoldmann, 2008) and humans in whom M129V has been targeted by many epidemiological studies (Supplementary file 3).…”

Section: Discussionmentioning

confidence: 99%