Genetic Studies in Human Prion Diseases.
10.3346/jkms.2014.29.5.623
- Author:
Byung Hoon JEONG
1
;
Yong Sun KIM
Author Information
1. Korea Zoonosis Research Institute, Chonbuk National University, Jeonju, Korea.
- Publication Type:Review
- Keywords:
Creutzfeldt-Jakob Disease;
Genome-Wide Association Study;
Prion Diseases;
Mutation;
Prion Protein Gene;
Polymorphism, Single Nucleotide
- MeSH:
Europe;
Far East;
Humans;
Mutation;
Polymorphism, Single Nucleotide;
Prion Diseases/epidemiology/*genetics;
Prions/*genetics
- From:Journal of Korean Medical Science
2014;29(5):623-632
- CountryRepublic of Korea
- Language:English
-
Abstract:
Human prion diseases are fatal neurodegenerative disorders that are characterized by spongiform changes, astrogliosis, and the accumulation of an abnormal prion protein (PrP(Sc)). 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-Straussler-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.
