The Genetics of Susceptibility to Variant Creutzfeldt-Jakob Disease

被引:12
作者
Saba, R. [1 ]
Booth, S. A. [1 ,2 ]
机构
[1] Publ Hlth Agcy Canada, Natl Microbiol Lab, Winnipeg, MB R3E 3R2, Canada
[2] Univ Manitoba, Dept Med Microbiol & Infect Dis, Winnipeg, MB, Canada
关键词
Genetics; Infection; microRNA; Mutations; Neurodegeneration; Prion disease; Single nucleotide polymorphisms; HUMAN PRION PROTEIN; INCUBATION PERIOD; RISK-FACTORS; PRNP GENE; POLYMORPHISM; SCRAPIE; MICE; INFECTION; KURU; UK;
D O I
10.1159/000345203
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The emergence of bovine spongiform encephalopathy (BSE) in cattle and, subsequently, its transmission to humans resulting in variant Creutzfeldt-Jakob disease (vCJD) in the UK has proved to be one of the major public health scares of the century. The oral route of infection, the long incubation period, and the incredible resistance of the transmissible infectious agent to various forms of decontamination poses unique challenges. Fortunately, despite extensive exposure of the UK population to contaminated meat, the size of the vCJD epidemic that has emerged since its initial detection is relatively low (225 worldwide). An explanation for this disparity is as yet incomplete, but the development of the disease is likely influenced by a number of factors including physical properties of the infectious agent, environmental factors such as the route and amount of exposure and individual susceptibility factors. This review focuses on current knowledge of the genetic factors that undoubtedly play a major role in influencing the development of vCJD. In terms of genetic susceptibility, the best characterised is the common single nucleotide polymorphism at codon 129 of the human prion protein gene (PRNP). Moreover, several other polymorphisms and mutations have been identified that may affect susceptibility as well as other important disease characteristics such as the highly variable prion disease incubation period. Copyright (C) 2013 S. Karger AG, Basel
引用
收藏
页码:17 / 24
页数:8
相关论文
共 56 条
[1]   Mechanisms of disease - Insights into prion strains and neurotoxicity [J].
Aguzzi, Adriano ;
Heikenwalder, Mathias ;
Polymenidou, Magdalini .
NATURE REVIEWS MOLECULAR CELL BIOLOGY, 2007, 8 (07) :552-561
[2]   Crystallographic Studies of Prion Protein (PrP) Segments Suggest How Structural Changes Encoded by Polymorphism at Residue 129 Modulate Susceptibility to Human Prion Disease [J].
Apostol, Marcin I. ;
Sawaya, Michael R. ;
Cascio, Duilio ;
Eisenberg, David .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2010, 285 (39) :29671-29675
[3]   vCJD prion acquires altered virulence through trams-species infection [J].
Asano, M ;
Mohri, S ;
Ironside, JW ;
Ito, M ;
Tamaoki, N ;
Kitamoto, T .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2006, 342 (01) :293-299
[4]   Age-related alterations affect the susceptibility of mice to prion infection [J].
Avrahami, Dana ;
Gabizon, Ruth .
NEUROBIOLOGY OF AGING, 2011, 32 (11) :2006-2015
[5]   Prion diseases: infectious and lethal doses following oral challenge [J].
Baier, M ;
Norley, S ;
Schultz, J ;
Burwinkel, M ;
Schwarz, A ;
Riemer, C .
JOURNAL OF GENERAL VIROLOGY, 2003, 84 :1927-1929
[6]   Association of a null allele of SPRN with variant Creutzfeldt-Jakob disease [J].
Beck, J. A. ;
Campbell, T. A. ;
Adamson, G. ;
Poulter, M. ;
Uphill, J. B. ;
Molou, E. ;
Collinge, J. ;
Mead, S. .
JOURNAL OF MEDICAL GENETICS, 2008, 45 (12) :813-817
[7]   PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism [J].
Bishop, Matthew T. ;
Pennington, Catherine ;
Heath, Craig A. ;
Will, Robert G. ;
Knight, Richard S. G. .
BMC MEDICAL GENETICS, 2009, 10
[8]   Predicting susceptibility and incubation time of human-to-human transmission of vCJD [J].
Bishop, MT ;
Hart, P ;
Aitchison, L ;
Baybutt, HN ;
Plinston, C ;
Thomson, V ;
Tuzi, NL ;
Head, MW ;
Ironside, JW ;
Will, RG ;
Manson, JC .
LANCET NEUROLOGY, 2006, 5 (05) :393-398
[9]   Regulatory sequences of the PRNP gene influence susceptibility to sporadic Creutzfeldt-Jakob disease [J].
Bratosiewicz-Wasik, Jolanta ;
Liberski, Pawel P. ;
Golanska, Ewa ;
Jansen, Gerhard H. ;
Wasik, Tomasz J. .
NEUROSCIENCE LETTERS, 2007, 411 (03) :163-167
[10]   The Prion Diseases [J].
Brown, Khalilah ;
Mastrianni, James A. .
JOURNAL OF GERIATRIC PSYCHIATRY AND NEUROLOGY, 2010, 23 (04) :277-298