| Title |
The influence of PRNP polymorphisms on human prion disease susceptibility: an update
|
|---|---|
| Published in |
Acta Neuropathologica, May 2015
|
| DOI | 10.1007/s00401-015-1447-7 |
| Pubmed ID | |
| Authors |
Atsushi Kobayashi, Kenta Teruya, Yuichi Matsuura, Tsuyoshi Shirai, Yoshikazu Nakamura, Masahito Yamada, Hidehiro Mizusawa, Shirou Mohri, Tetsuyuki Kitamoto |
| Abstract |
Two normally occurring polymorphisms of the human PRNP gene, methionine (M)/valine (V) at codon 129 and glutamic acid (E)/lysine (K) at codon 219, can affect the susceptibility to prion diseases. It has long been recognized that 129M/M homozygotes are overrepresented in sporadic Creutzfeldt-Jakob disease (CJD) patients and variant CJD patients, whereas 219E/K heterozygotes are absent in sporadic CJD patients. In addition to these pioneering findings, recent progress in experimental transmission studies and worldwide surveillance of prion diseases have identified novel relationships between the PRNP polymorphisms and the prion disease susceptibility. For example, although 219E/K heterozygosity confers resistance against the development of sporadic CJD, this genotype is not entirely protective against acquired forms (iatrogenic CJD and variant CJD) or genetic forms (genetic CJD and Gerstmann-Sträussler-Scheinker syndrome) of prion diseases. In addition, 129M/V heterozygotes predispose to genetic CJD caused by a pathogenic PRNP mutation at codon 180. These findings show that the effects of the PRNP polymorphisms may be more complicated than previously thought. This review aims to summarize recent advances in our knowledge about the influence of the PRNP polymorphisms on the prion disease susceptibility. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 53 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 2% |
| Unknown | 52 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 10 | 19% |
| Student > Ph. D. Student | 7 | 13% |
| Researcher | 6 | 11% |
| Student > Postgraduate | 4 | 8% |
| Professor > Associate Professor | 4 | 8% |
| Other | 8 | 15% |
| Unknown | 14 | 26% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 12 | 23% |
| Agricultural and Biological Sciences | 10 | 19% |
| Medicine and Dentistry | 8 | 15% |
| Neuroscience | 4 | 8% |
| Social Sciences | 2 | 4% |
| Other | 3 | 6% |
| Unknown | 14 | 26% |
Attention Score in Context
This research output has an Altmetric Attention Score of 10. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 11 June 2015.
All research outputs
#3,119,437
of 22,807,037 outputs
Outputs from Acta Neuropathologica
#794
of 2,369 outputs
Outputs of similar age
#42,251
of 265,918 outputs
Outputs of similar age from Acta Neuropathologica
#16
of 32 outputs
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