Polymorphism at 3' UTR +28 of the prion-like protein gene is associated with sporadic Creutzfeldt-Jakob disease.
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.
Jeong
Byung-Hoon
BH
Ilsong Institute of Life Science, Hallym University, 1605-4 Gwanyang-dong, Dongan-gu, Anyang, Kyounggi-do, South Korea.
Kim
Nam-Ho
NH
Choi
Eun-Kyoung
EK
Lee
Chaeyoung
C
Song
Young-Han
YH
Kim
Jae-Il
JI
Carp
Richard I
RI
Kim
Yong-Sun
YS
D000368:Aged; D000595:Amino Acid Sequence; D001057:Apolipoproteins E / Q000235:genetics; D001483:Base Sequence; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics*; D005260:Female; D058851:GPI-Linked Proteins; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007723:Korea; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D008875:Middle Aged; D016366:Open Reading Frames; D020641:Polymorphism, Single Nucleotide; D011328:Prions / Q000235:genetics*; D020506:Untranslated Regions
D001057:Apolipoproteins E; D058851:GPI-Linked Proteins; C501125:PRND protein, human; D011328:Prions; D020506:Untranslated Regions