Title |
Genetics of prion diseases
|
---|---|
Published in |
Current Opinion in Genetics & Development, March 2013
|
DOI | 10.1016/j.gde.2013.02.012 |
Pubmed ID | |
Authors |
Sarah E Lloyd, Simon Mead, John Collinge |
Abstract |
Prion diseases are transmissible, fatal neurodegenerative diseases that include scrapie and bovine spongiform encephalopathy (BSE) in animals and Creutzfeldt-Jakob disease (CJD) in human. The prion protein gene (PRNP) is the major genetic determinant of susceptibility, however, several studies now suggest that other genes are also important. Two recent genome wide association studies in human have identified four new loci of interest: ZBTB38-RASA2 in UK CJD cases and MTMR7 and NPAS2 in variant CJD. Complementary studies in mouse have used complex crosses to identify new modifiers such as Cpne8 and provided supporting evidence for previously implicated genes (Rarb and Stmn2). Expression profiling has identified new candidates, including Hspa13, which reduces incubation time in a transgenic model. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Australia | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
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Scientists | 1 | 50% |
Members of the public | 1 | 50% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Portugal | 1 | <1% |
France | 1 | <1% |
United Kingdom | 1 | <1% |
Canada | 1 | <1% |
China | 1 | <1% |
Japan | 1 | <1% |
United States | 1 | <1% |
Unknown | 140 | 95% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 28 | 19% |
Student > Ph. D. Student | 27 | 18% |
Researcher | 27 | 18% |
Student > Master | 17 | 12% |
Other | 8 | 5% |
Other | 29 | 20% |
Unknown | 11 | 7% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 44 | 30% |
Biochemistry, Genetics and Molecular Biology | 31 | 21% |
Neuroscience | 19 | 13% |
Medicine and Dentistry | 17 | 12% |
Immunology and Microbiology | 4 | 3% |
Other | 16 | 11% |
Unknown | 16 | 11% |