The first report of RPSA polymorphisms, also called 37/67 kDa LRP/LR gene, in sporadic Creutzfeldt-Jakob disease (CJD)

Yun, Jisuk; Jin, Hyoung-Tae; Lee, Yun‐Jung; Choi, Eun‐Kyoung; Carp, Richard I.; Jeong, Byung‐Hoon; Kim, Yong‐Sun

doi:10.1186/1471-2350-12-108

Cited by 9 publications

(4 citation statements)

References 32 publications

(49 reference statements)

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“…LRP/LR acts as a receptor for PrP C and PrP Sc ( 106 , 107 ). Four RPSA SNPs (5' UTR-8T>C, 134-32C>T, 519G>A, and 793+58C>T) were not linked to sporadic CJD susceptibility ( 108 ).…”

Section: Polymorphisms In Other Candidate Genesmentioning

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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“…LRP/LR acts as a receptor for PrP C and PrP Sc ( 106 , 107 ). Four RPSA SNPs (5' UTR-8T>C, 134-32C>T, 519G>A, and 793+58C>T) were not linked to sporadic CJD susceptibility ( 108 ).…”

Section: Polymorphisms In Other Candidate Genesmentioning

confidence: 99%

Genetic Studies in Human Prion Diseases

Jeong

Kim

2014

J Korean Med Sci

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“…These possible polymorphic amino acids cannot be confirmed by any EST of the NCBI databank. In the human mutation study 4 SNPs were observed, including a synonymous one in the coding region (exon 5) (Yun et al, 2011). An association study with sporadic Creutzfeldt-Jakob disease found no significant associations.…”

Section: Mutation Detection Of the Rpsa Gene In Sheepmentioning

confidence: 99%

Ribosomal protein SA and its pseudogenes in ruminants: an extremely conserved gene family

Broeke¹,

Poucke²,

Zeveren³

et al. 2013

Czech J. Anim. Sci.

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ABSTRACT:The ribosomal protein SA (RPSA), also known as 37-kDa laminin receptor precursor/67-kDa laminin receptor (LRP/LR), has been identified as a multifunctional protein, playing an important role in multiple pathologies like cancer and prion diseases. Since RPSA is involved in the binding and internalization of the prion protein, mutations in the ovine RPSA gene, influencing the RPSA-PrP C /PrP Sc binding, can potentially play a part in the resistance to prion diseases. Our goal was to further characterize the complex RPSA gene family and to detect structural mutations which can play a role in this disease. In a prior study, 11 ovine pseudogenes were detected experimentally. As the whole genome shotgun ovine genome became accessible, an in silico genome-wide screening was performed and 37 new pseudogenes (36 processed and one semi-processed pseudogene) were detected, bringing the total to 48 ovine RPSA pseudogenes. Additionally, the complete bovine genome was screened in silico and 56 pseudogenes were identified. Once these sequences were known, it was possible to analyze the presence of mutations in the coding sequence and exon-flanking regions of the ovine functional full-length RPSA gene without the interference of pseudogenic sequences. Nineteen mutations were found: one in the 5' UTR, a silent one in the coding region, and seventeen in the exon-flanking regions, including an interesting mutation in the SNORA62 gene, localized in intron 4 of RPSA, leading to potential ribosomal defects. Structural mutations of the RPSA gene can be ruled out to play a role in transmissible spongiform encephalopathies but regulatory mutations still can have an effect on these diseases.

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“…We used previously established criteria [19] for diagnosis of sporadic CJD in Korea. The sporadic CJD cases in Korea have been reported previously [20,21,22]. The study was approved by the Ethical Committee of Hallym University Sacred Heart Hospital and informed consent was given by all subjects or their caregivers.…”

Section: Methodsmentioning

confidence: 99%

Absence of Association between the Incidence of BK Virus and Sporadic Creutzfeldt-Jakob Disease

Jeong¹,

Lee²,

Cho³

et al. 2013

Intervirology

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Background: Many studies suggest that the virus-like particles are required for the infection of Creutzfeldt-Jakob disease (CJD). Objective: To determine the relationship between BK polyomavirus (BKV) and sporadic CJD. Materials and Methods: We investigated the prevalence of BKV in urine samples from 94 sporadic CJD patients and 54 other neurological disease (OND) patients using polymerase chain reaction. Results: BKV DNA was detected in 16 (17%) and 9 (16.7%) urine samples from sporadic CJD and OND patients, respectively. There was no significant difference in the incidence of BKV infection between Korean sporadic CJD and OND patients (p = 0.9558). In order to investigate the genotypes of BKV, we analyzed 22 BKV isolates obtained from Korean patients by DNA sequencing and nucleotide sequence analysis. Three distinct subtypes, namely I, III, and IV, were found in 66.7, 22.2, and 11.1% of 9 BKV isolates from OND patients, whereas subtypes I and IV were detected in 76.9 and 23.1% of 13 BKV isolates from sporadic CJD patients. Interestingly, subtype III was not detected in sporadic CJD patients. Significant differences in the frequency of BKV genotypes were not observed between sporadic CJD and OND patients. Conclusions: These results indicate that BKV may not play an important role in the pathogenesis of prion diseases.

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The first report of RPSA polymorphisms, also called 37/67 kDa LRP/LR gene, in sporadic Creutzfeldt-Jakob disease (CJD)

Cited by 9 publications

References 32 publications

Genetic Studies in Human Prion Diseases

Genetic Studies in Human Prion Diseases

Ribosomal protein SA and its pseudogenes in ruminants: an extremely conserved gene family

Absence of Association between the Incidence of BK Virus and Sporadic Creutzfeldt-Jakob Disease

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