Genetic Studies in Human Prion Diseases

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...

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Published inJournal of Korean medical science Vol. 29; no. 5; pp. 623 - 632
Main Authors Jeong, Byung-Hoon, Kim, Yong-Sun
Format Journal Article
LanguageEnglish
Published Korea (South) The Korean Academy of Medical Sciences 01.05.2014
대한의학회
Subjects
Europe
Far East
Humans
Mutation
Polymorphism, Single Nucleotide
Prion Diseases - epidemiology
Prion Diseases - genetics
Prion Proteins
Prions - genetics
Review
의학일반
Prion Protein Gene
Genome-Wide Association Study
Prion Diseases
Polymorphism, Single Nucleotide
Mutation
Creutzfeldt-Jakob Disease
Online AccessGet full text
ISSN1011-8934
1598-6357
1598-6357
DOI10.3346/jkms.2014.29.5.623

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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-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.
AbstractList 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-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.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-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.
Human prion diseases are fatal neurodegenerative disorders that are characterized byspongiform changes, astrogliosis, and the accumulation of an abnormal prion protein(PrPSc). Approximately 10%-15% of human prion diseases are familial variants that arecaused by pathogenic mutations in the prion protein gene (PRNP). Point mutations or theinsertions of one or more copies of a 24 bp repeat are associated with familial human priondiseases including familial Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinkersyndrome, and fatal familial insomnia. These mutations vary significantly in frequencybetween countries. Here, we compare the frequency of PRNP mutations betweenEuropean countries and East Asians. Associations between single nucleotide polymorphisms(SNPs) of several candidate genes including PRNP and CJD have been reported. The SNP ofPRNP at codon 129 has been shown to be associated with sporadic, iatrogenic, and variantCJD. 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 toidentify candidate genes correlated with variant and/or sporadic CJD. This review providesa general overview of the genetic mutations and polymorphisms that have been analyzedin association with human prion diseases to date. KCI Citation Count: 3
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-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.
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-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.
Author Jeong, Byung-Hoon
Kim, Yong-Sun
AuthorAffiliation 2 Ilsong Institute of Life Science, Hallym University, Anyang, Korea
1 Korea Zoonosis Research Institute, Chonbuk National University, Jeonju, Korea
AuthorAffiliation_xml – name: 2 Ilsong Institute of Life Science, Hallym University, Anyang, Korea
– name: 1 Korea Zoonosis Research Institute, Chonbuk National University, Jeonju, Korea
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  orcidid: 0000-0002-4525-9994
  surname: Jeong
  fullname: Jeong, Byung-Hoon
  organization: Korea Zoonosis Research Institute, Chonbuk National University, Jeonju, Korea
– sequence: 2
  givenname: Yong-Sun
  orcidid: 0000-0002-9591-7262
  surname: Kim
  fullname: Kim, Yong-Sun
  organization: Ilsong Institute of Life Science, Hallym University, Anyang, Korea
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Issue 5
Keywords Prion Protein Gene
Genome-Wide Association Study
Prion Diseases
Polymorphism, Single Nucleotide
Mutation
Creutzfeldt-Jakob Disease
Language English
License http://creativecommons.org/licenses/by-nc/3.0
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Snippet Human prion diseases are fatal neurodegenerative disorders that are characterized by spongiform changes, astrogliosis, and the accumulation of an abnormal...
Human prion diseases are fatal neurodegenerative disorders that are characterized byspongiform changes, astrogliosis, and the accumulation of an abnormal prion...
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SubjectTerms Europe
Far East
Humans
Mutation
Polymorphism, Single Nucleotide
Prion Diseases - epidemiology
Prion Diseases - genetics
Prion Proteins
Prions - genetics
Review
의학일반
Title Genetic Studies in Human Prion Diseases
URI https://www.ncbi.nlm.nih.gov/pubmed/24851016
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https://pubmed.ncbi.nlm.nih.gov/PMC4024956
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