Genetics of prion diseases

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• 作者：Sarah E Lloyd ; Simon Mead ; John Collinge
• 刊名：Current Opinion in Genetics & Development
• 出版年：2013
• 出版时间：June, 2013
• 年：2013
• 卷：23
• 期：3
• 页码：345-351
• 全文大小：1282 K

文摘

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.