Sod1 Deficiency Reduces Incubation Time in Mouse Models of Prion Disease

PLoS ONE

Volumn 8, Issue 1, 2013, Pages

  Akhtar, Shaheen ^a   Grizenkova, Julia ^a   Wenborn, Adam ^a   Hummerich, Holger ^a   Fernandez de Marco, Mar ^a   Brandner, Sebastian ^a   Collinge, John ^a   Lloyd, Sarah E ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC VARIABILITY; INCUBATION TIME; MOUSE; NEUROPATHOLOGY; NONHUMAN; PRION DISEASE; QUANTITATIVE TRAIT LOCUS; SINGLE NUCLEOTIDE POLYMORPHISM; VIRUS STRAIN;

AMYLOID BETA-PROTEIN PRECURSOR; ANIMALS; DISEASE MODELS, ANIMAL; GENETIC ASSOCIATION STUDIES; HUMANS; MICE; POLYMORPHISM, SINGLE NUCLEOTIDE; PRION DISEASES; QUANTITATIVE TRAIT LOCI; RECEPTORS, INTERLEUKIN-11; SUPEROXIDE DISMUTASE;

BOS; MUS; OVIS ARIES;

EID: 84872826163     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0054454     Document Type: Article

References (45)

1. Collinge J, (2001) Prion diseases of humans and animals: their causes and molecular basis. Ann Rev Neurosci 24: 519-550.
2. Bueler H, Aguzzi A, Sailer A, Greiner RA, Autenried P, et al. (1993) Mice devoid of PrP are resistant to scrapie. Cell 73: 1339-1347.
3. Fischer M, Rulicke T, Raeber A, Sailer A, Moser M, et al. (1996) Prion protein (PrP) with amino-proximal deletions restoring susceptibility of PrP knockout mice to scrapie. EMBO J 15: 1255-1264.
4. Moore RC, Hope J, McBride PA, McConnell I, Selfridge J, et al. (1998) Mice with gene targetted prion protein alterations show that Prnp, Sinc and Prni are congruent. Nat Genet 18: 118-125.
5. Westaway D, Goodman PA, Mirenda CA, McKinley MP, Carlson GA, et al. (1987) Distinct prion proteins in short and long scrapie incubation period mice. Cell 51: 651-662.
6. Carlson GA, Goodman PA, Lovett M, Taylor BA, Marshall ST, et al. (1988) Genetics and polymorphism of the mouse prion gene complex: control of scrapie incubation time. Mol Cell Biol 8: 5528-5540.
7. Carlson GA, Ebeling C, Torchia M, Westaway D, Prusiner SB, (1993) Delimiting the Location of the Scrapie Prion Incubation Time Gene on Chromosome 2 of the Mouse. Genetics 133: 979-988.
8. Lloyd S, Thompson SR, Beck J, Linehan J, Wadsworth JD, et al. (2004) Identification and characterization of a novel mouse prion gene allele. Mamm Genome 15: 383-389.
9. Collinge J, Palmer MS, Dryden AJ, (1991) Genetic predisposition to iatrogenic Creutzfeldt-Jakob disease. Lancet 337: 1441-1442.
10. Mead S, Stumpf MP, Whitfield J, Beck J, Poulter M, et al. (2003) Balancing selection at the prion protein gene consistent with prehistoric kuru-like epidemics. Science 300: 640-643.
11. Palmer MS, Dryden AJ, Hughes JT, Collinge J, (1991) Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease. Nature 352: 340-342.
12. Collinge J, (2005) Molecular neurology of prion disease. J Neurol Neurosurg Psychiatry 76: 906-919.
13. Mead S, Poulter M, Uphill J, Beck J, Whitfield J, et al. (2009) Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study. Lancet Neurol 8: 57-66.
14. Lloyd S, Collinge J, (2005) Genetic Susceptibility to Prion Diseases in Humans and Mice. Current Genomics 6: 1-11.
15. Lloyd S, Onwuazor ON, Beck J, Mallinson G, Farrall M, et al. (2001) Identification of multiple quantitative trait loci linked to prion disease incubation period in mice. Proc Natl Acad Sci USA 98: 6279-6283.
16. Lloyd S, Uphill JB, Targonski PV, Fisher E, Collinge J, (2002) Identification of genetic loci affecting mouse-adapted bovine spongiform encephalopathy incubation time in mice. Neurogenetics 4: 77-81.
17. Stephenson DA, Chiotti K, Ebeling C, Groth D, DeArmond SJ, et al. (2000) Quantitative trait loci affecting prion incubation time in mice. Genomics 69: 47-53.
18. Manolakou K, Beaton J, McConnell I, Farquar C, Manson J, et al. (2001) Genetic and environmental factors modify bovine spongiform encephalopathy incubation period in mice. Proc Natl Acad Sci USA 98: 7402-7407.
19. Moreno CR, Lantier F, Lantier I, Sarradin P, Elsen JM, (2003) Detection of new quantitative trait loci for susceptibility to transmissible spongiform encephalopathies in mice. Genetics 165: 2085-2091.
20. Mead S, Uphill J, Beck J, Poulter M, Campbell T, et al. (2011) Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. Hum Mol Genet 21: 1897-1906.
21. Tamguney G, Giles K, Glidden DV, Lessard P, Wille H, et al. (2008) Genes contributing to prion pathogenesis. J Gen Virol 89: 1777-1788.
22. Lloyd SE, Maytham EG, Pota H, Grizenkova J, Molou E, et al. (2009) HECTD2 is associated with susceptibility to mouse and human prion disease. PLoS Genet 5: e1000383.
23. Lloyd SE, Maytham EG, Grizenkova J, Hummerich H, Collinge J, (2010) A Copine family member, Cpne8, is a candidate quantitative trait gene for prion disease incubation time in mouse. Neurogenetics 11: 185-191.
24. Valdar W, Solberg LC, Gauguier D, Burnett S, Klenerman P, et al. (2006) Genome-wide genetic association of complex traits in heterogeneous stock mice. Nat Genet 38: 879-887.
25. Grizenkova J, Akhtar S, Collinge J, Lloyd SE, (2010) The retinoic Acid receptor Beta (rarb) region of mmu14 is associated with prion disease incubation time in mouse. PLoS ONE 5: e15019.
26. Kilkenny C, Browne WJ, Cuthill IC, Emerson M, Altman DG, (2010) Improving Bioscience Research Reporting: The ARRIVE Guidelines for Reporting Animal Research. PloS Biology 8: e1000412.
27. Matzuk MM, Dionne L, Guo QX, Kumar TR, Lebovitz RM, (1998) Ovarian function in superoxide dismutase 1 and 2 knockout mice. Endocrinology 139: 4008-4011.
28. Grizenkova J, Akhtar S, Hummerich H, Tomlinson A, Asante EA, et al. (2012) Overexpression of the Hspa13 (Stch) gene reduces prion disease incubation time in mice. Proc Natl Acad Sci USA 109: 13722-13727.
29. O'Shea M, Maytham EG, Linehan JM, Brandner S, Collinge J, et al. (2008) Investigation of Mcp1 as a Quantitative Trait Gene for Prion Disease Incubation Time in Mouse. Genetics 180: 559-566.
30. Wadsworth JD, Joiner S, Hill AF, Campbell TA, Desbruslais M, et al. (2001) Tissue distribution of protease resistant prion protein in variant CJD using a highly sensitive immuno-blotting assay. Lancet 358: 171-180.
31. Asante E, Linehan J, Desbruslais M, Joiner S, Gowland I, et al. (2002) BSE prions propagate as either variant CJD-like or sporadic CJD-like prion strains in transgenic mice expressing human prion protein. EMBO J 21 (23): 6358-6366.
32. Wadsworth JD, Joiner S, Linehan J, Cooper S, Powell C, et al. (2006) Phenotypic heterogeneity in inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and mutant prion protein. Brain 129: 1557-1569.
33. Hitzemann B, Dains K, Kanes S, Hitzemann R, (1994) Further-Studies on the Relationship Between Dopamine Cell-Density and Haloperidol-Induced Catalepsy. J Pharm Exp Ther 271: 969-976.
34. Lloyd S, Linehan J, Desbruslais M, Joiner S, Buckell J, et al. (2004) Characterization of two distinct prion strains derived from bovine spongiform encephalopathy transmissions to inbred mice. J Gen Virol 85: 2471-2478.
35. Parkin ET, Watt NT, Hussain I, Eckman EA, Eckman CB, et al. (2007) Cellular prion protein regulates beta-secretase cleavage of the Alzheimer's amyloid precursor protein. Proc Natl Acad Sci USA 104: 11062-11067.
36. Lauren J, Gimbel DA, Nygaard HB, Gilbert JW, Strittmatter SM, (2009) Cellular prion protein mediates impairment of synaptic plasticity by amyloid-beta oligomers. Nature 457: 1128-1132.
37. Barry AE, Klyubin I, Mc Donald JM, Mably AJ, Farrell MA, et al. (2011) Alzheimer's Disease Brain-Derived Amyloid-beta-Mediated Inhibition of LTP In Vivo Is Prevented by Immunotargeting Cellular Prion Protein. J Neurosci 31: 7259-7263.
38. Freir DB, Nicoll AJ, Klyubin I, Panico S, Mc Donald JM, et al. (2011) Interaction between prion protein and toxic amyloid beta assemblies can be therapeutically targeted at multiple sites. Nat Commun 2: 336.
39. Schultz J, Schwarz A, Neidhold S, Burwinkel M, Riemer C, et al. (2004) Role of interleukin-1 in prion disease-associated astrocyte activation. Am J Pathol 165: 671-678.
40. Joyce PI, Fratta P, Fisher EMC, Acevedo-Arozena A, (2011) SOD1 and TDP-43 animal models of amyotrophic lateral sclerosis: recent advances in understanding disease toward the development of clinical treatments. Mamm Genome 22: 420-448.
41. Murakami K, Murata N, Noda Y, Tahara S, Kaneko T, et al. (2011) SOD1 (Copper/Zinc Superoxide Dismutase) Deficiency Drives Amyloid beta Protein Oligomerization and Memory Loss in Mouse Model of Alzheimer Disease. J Biol Chem 286: 44557-44568.
42. Iadecola C, Zhang F, Niwa K, Eckman C, Turner SK, et al. (1999) SOD1 rescues cerebral endothelial dysfunction in mice overexpressing amyloid precursor protein. Nat Neurosci 2: 157-161.
43. Lee DW, Sohn HO, Lim HB, Lee YG, Kim YS, et al. (1999) Alteration of free radical metabolism in the brain of mice infected with scrapie agent. Free Radic Res 30: 499-507.
44. Siskova Z, Mahad DJ, Pudney C, Campbell G, Cadogan M, et al. (2010) Morphological and Functional Abnormalities in Mitochondria Associated with Synaptic Degeneration in Prion Disease. Am J Pathol 177: 1411-1421.
45. Freixes M, Rodriguez A, Dalfo E, Ferrer I, (2005) Oxidation, glycoxidation, lipoxidation, nitration, and responses to oxidative stress in the cerebral cortex in Creutzfeldt-Jakob disease. Neurobiol Aging 27: 1807-1815.