Polymorphism at 3' UTR +28 of the prion-like protein gene is associated with sporadic Creutzfeldt-Jakob disease.

Abstract

The downstream prion-like protein (doppel or Dpl) shares significant biochemical and structural homology with the cellular prion protein, PrP(C), which is considered as a responsible protein for the transmissible spongiform encephalopathies (TSEs) or prion diseases. Recently, polymorphisms in open reading frame (ORF) of the prion-like protein gene (PRND) have been analysed in relation to the occurrence of prion diseases and other neurodegenerative disorders. We examined the role of a single-nucleotide polymorphism (SNP) at 3' untranslated region (UTR) +28 of PRND. We analysed this polymorphism in 110 Korean patients with sporadic Creutzfeldt-Jakob disease (CJD) and 102 healthy control subjects. Significant differences in genotype (P=0.005) and allele (P=0.032) frequencies at 3' UTR +28 were observed between sporadic CJD and normal controls. This result suggests that the PRND polymorphism at 3' UTR +28 might be associated with the occurrence of sporadic CJD.

• Authors: Byung-Hoon Jeong, Nam-Ho Kim, Eun-Kyoung Choi, Chaeyoung Lee, Young-Han Song, Jae-Il Kim, Richard I Carp, Yong-Sun Kim
• Journal: European journal of human genetics : EJHG (Eur J Hum Genet) Vol. 13 Issue 9 Pg. 1094-7 (Sep 2005) ISSN: 1018-4813 [Print] England
• PMID: 15986038 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Apolipoproteins E
• GPI-Linked Proteins
• PRND protein, human
• Prions
• Untranslated Regions

Topics

• Aged
• Amino Acid Sequence
• Apolipoproteins E (genetics)
• Base Sequence
• Creutzfeldt-Jakob Syndrome (genetics)
• Female
• GPI-Linked Proteins
• Gene Frequency
• Genetic Predisposition to Disease
• Humans
• Korea
• Linkage Disequilibrium (genetics)
• Male
• Middle Aged
• Open Reading Frames
• Polymorphism, Single Nucleotide
• Prions (genetics)
• Untranslated Regions