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International Journal of Alzheimer’s Disease
Volume 2011, Article ID 809218, 14 pages
http://dx.doi.org/10.4061/2011/809218
Research Article

Specific Silencing of L392V PSEN1 Mutant Allele by RNA Interference

1Department of Bioorganic Chemistry, Centre of Molecular and Macromolecular Studies, Polish Academy of Sciences, 90-363 Lodz, Sienkiewicza 112, Poland
2Department of Neurological and Psychiatric Sciences, University of Florence, Viale Morgagni 85, 50134 Florence, Italy
3Institute of Organic Chemistry, Technical University of Lodz, 90-924 Lodz, Zeromskiego 116, Poland

Received 27 November 2010; Accepted 7 February 2011

Academic Editor: Thomas Arendt

Copyright © 2011 Malgorzata Sierant et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. T. Sjögren, H. Sjögren, and A. G. Lindgren, “Morbus Alzheimer and morbus Pick; a genetic, clinical and pathoanatomical study,” Acta Psychiatrica et Neurologica Scandinavica. Supplementum, vol. 82, pp. 1–152, 1952. View at Google Scholar
  2. D. Goldgaber, M. I. Lerman, O. W. McBride, U. Saffiotti, and D. C. Gajdusek, “Characterization and chromosomal localization of a cDNA encodingbrain amyloid of Alzheimer's disease,” Science, vol. 235, no. 4791, pp. 877–880, 1987. View at Google Scholar
  3. R. E. Tanzi, J. F. Gusella, P. C. Watkins et al., “Amyloid ß protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus,” Science, vol. 235, no. 4791, pp. 880–884, 1987. View at Google Scholar
  4. P. H. St George-Hyslop, R. E. Tanzi, R. J. Polinsky et al., “The genetic defect causing familial Alzheimer's disease maps on chromosome 21,” Science, vol. 235, no. 4791, pp. 885–890, 1987. View at Google Scholar
  5. A. M. Goate, M. J. Owen, L. A. James et al., “Predisposing locus for Alzheimer's disease on chromosome 21,” The Lancet, vol. 1, no. 8634, pp. 352–355, 1989. View at Google Scholar · View at Scopus
  6. A. Goate, M. C. Chartier-Harlin, M. Mullan et al., “Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease,” Nature, vol. 349, no. 6311, pp. 704–706, 1991. View at Publisher · View at Google Scholar · View at Scopus
  7. R. Sherrington, E. I. Rogaev, Y. Liang et al., “Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease,” Nature, vol. 375, no. 6534, pp. 754–760, 1995. View at Google Scholar
  8. E. Levy-Lahad, E. M. Wijsman, E. Nemens et al., “A familial Alzheimer's disease locus on chromosome I,” Science, vol. 269, no. 5226, pp. 970–973, 1995. View at Google Scholar · View at Scopus
  9. E. I. Rogaev, R. Sherrington, E. A. Rogaeva et al., “Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene,” Nature, vol. 376, no. 6543, pp. 775–778, 1995. View at Google Scholar
  10. “Alzheimer Disease and Frontotemporal Dementia Mutation Database,” http://www.molgen.ua.ac.be/ADMutations/.
  11. H. Laudon, E. M. Hansson, K. Melén et al., “A nine-transmembrane domain topology for presenilin 1,” Journal of Biological Chemistry, vol. 280, no. 42, pp. 35352–35360, 2005. View at Publisher · View at Google Scholar · View at Scopus
  12. D. Spasic, A. Tolia, K. Dillen et al., “Presenilin-1 maintains a nine-transmembrane topology throughout the secretory pathway,” Journal of Biological Chemistry, vol. 281, no. 36, pp. 26569–26577, 2006. View at Publisher · View at Google Scholar · View at Scopus
  13. M. S. Wolfe, “γ-secretase in biology and medicine,” Seminars in Cell and Developmental Biology, vol. 20, no. 2, pp. 219–224, 2009. View at Publisher · View at Google Scholar · View at Scopus
  14. H. Li, M. S. Wolfe, and D. J. Selkoe, “Toward structural elucidation of the γ-secretase complex,” Structure, vol. 17, no. 3, pp. 326–334, 2009. View at Publisher · View at Google Scholar · View at Scopus
  15. B. De Strooper and W. Annaert, “Novel research horizons for presenilins and γ-secretases in cell biology and disease,” Annual Review of Cell and Developmental Biology, vol. 26, pp. 235–260, 2010. View at Publisher · View at Google Scholar
  16. M. T. Lai, E. Chen, M. C. Crouthamel et al., “Presenilin-1 and presenilin-2 exhibit distinct yet overlapping γ-secretase activities,” Journal of Biological Chemistry, vol. 278, no. 25, pp. 22475–22481, 2003. View at Publisher · View at Google Scholar · View at Scopus
  17. I. F. Smith, K. N. Green, and F. M. LaFerla, “Calcium dysregulation in Alzheimer's disease: recent advances gained from genetically modified animals,” Cell Calcium, vol. 38, no. 3-4, pp. 427–437, 2005. View at Publisher · View at Google Scholar · View at Scopus
  18. G. Serban, Z. Kouchi, L. Baki et al., “Cadherins mediate both the association between PS1 and β-catenin and the effects of PS1 on β-catenin stability,” Journal of Biological Chemistry, vol. 280, no. 43, pp. 36007–36012, 2005. View at Publisher · View at Google Scholar · View at Scopus
  19. Z. Zhang, H. Hartmann, V. M. Do et al., “Destabilization of β-catenin by mutations in presenilin-1 potentiates neuronal apoptosis,” Nature, vol. 395, no. 6703, pp. 698–702, 1998. View at Publisher · View at Google Scholar · View at Scopus
  20. T. Ikeuchi, H. Kaneko, A. Miyashita et al., “Mutational analysis in early-onset familial dementia in the Japanese population: the role of PSEN1 and MAPT R406W mutations,” Dementia and Geriatric Cognitive Disorders, vol. 26, no. 1, pp. 43–49, 2008. View at Publisher · View at Google Scholar · View at Scopus
  21. E. L. Pfister, L. Kennington, J. Straubhaar et al., “Five siRNAs targeting three SNPs may provide therapy for three-quarters of Huntington's disease patients,” Current Biology, vol. 19, no. 9, pp. 774–778, 2009. View at Publisher · View at Google Scholar · View at Scopus
  22. Y. Zhang, J. Engelman, and R. M. Friedlander, “Allele-specific silencing of mutant Huntington's disease gene,” Journal of Neurochemistry, vol. 108, no. 1, pp. 82–90, 2009. View at Publisher · View at Google Scholar · View at Scopus
  23. M. S. Lombardi, L. Jaspers, C. Spronkmans et al., “A majority of Huntington's disease patients may be treatable by individualized allele-specific RNA interference,” Experimental Neurology, vol. 217, no. 2, pp. 312–319, 2009. View at Publisher · View at Google Scholar · View at Scopus
  24. E. Rodriguez-Lebron, E. M. Denovan-Wright, K. Nash, A. S. Lewin, and R. J. Mandel, “Intrastriatal rAAV-mediated delivery of anti-huntingtin shRNAs induces partial reversal of disease progression in R6/1 Huntington's disease transgenic mice,” Molecular Therapy, vol. 12, no. 4, pp. 618–633, 2005. View at Publisher · View at Google Scholar · View at Scopus
  25. S. Q. Harper, P. D. Staber, X. He et al., “RNA interference improves motor and neuropathological abnormalities in a Huntington's disease mouse model,” Proceedings of the National Academy of Sciences of the United States of America, vol. 102, no. 16, pp. 5820–5825, 2005. View at Publisher · View at Google Scholar · View at Scopus
  26. S. C. Warby, A. Montpetit, A. R. Hayden et al., “CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup,” American Journal of Human Genetics, vol. 84, no. 3, pp. 351–366, 2009. View at Publisher · View at Google Scholar · View at Scopus
  27. P. H. J. van Bilsen, L. Jaspers, M. S. Lombardi, J. C. E. Odekerken, E. N. Burright, and W. F. Kaemmerer, “Identification and allele-specific silencing of the mutant huntingtin allele in Huntington's disease patient-derived fibroblasts,” Human Gene Therapy, vol. 19, no. 7, pp. 710–718, 2008. View at Publisher · View at Google Scholar · View at Scopus
  28. M. K. Sapru, J. W. Yates, S. Hogan, L. Jiang, J. Halter, and M. C. Bohn, “Silencing of human α-synuclein in vitro and in rat brain using lentiviral-mediated RNAi,” Experimental Neurology, vol. 198, no. 2, pp. 382–390, 2006. View at Publisher · View at Google Scholar · View at Scopus
  29. D. S. Schwarz, H. Ding, L. Kennington et al., “Designing siRNA that distinguish between genes that differ by a single nucleotide,” PLoS Genetics, vol. 2, no. 9, article e140, 2006. View at Publisher · View at Google Scholar · View at Scopus
  30. M. M. Maxwell, P. Pasinelli, A. G. Kazantsev, and R. H. Brown Jr., “RNA interference-mediated silencing of mutant superoxide dismutase rescues cyclosporin A-induced death in cultured neuroblastoma cells,” Proceedings of the National Academy of Sciences of the United States of America, vol. 101, no. 9, pp. 3178–3183, 2004. View at Publisher · View at Google Scholar · View at Scopus
  31. C. Raoul, T. Abbas-Terki, J. C. Bensadoun et al., “Lentiviral-mediated silencing of SOD1 through RNA interference retards disease onset and progression in a mouse model of ALS,” Nature Medicine, vol. 11, no. 4, pp. 423–428, 2005. View at Publisher · View at Google Scholar · View at Scopus
  32. G. S. Ralph, P. A. Radcliffe, D. M. Day et al., “Silencing mutant SOD1 using RNAi protects against neurodegeneration and extends survival in an ALS model,” Nature Medicine, vol. 11, no. 4, pp. 429–433, 2005. View at Publisher · View at Google Scholar · View at Scopus
  33. T. Yokota, M. Miyagishi, T. Hino et al., “siRNA-based inhibition specific for mutant SOD1 with single nucleotide alternation in familial ALS, compared with ribozyme and DNA enzyme,” Biochemical and Biophysical Research Communications, vol. 314, no. 1, pp. 283–291, 2004. View at Publisher · View at Google Scholar · View at Scopus
  34. H. Xia, Q. Mao, S. L. Eliason et al., “RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia,” Nature Medicine, vol. 10, no. 8, pp. 816–820, 2004. View at Publisher · View at Google Scholar · View at Scopus
  35. V. M. Miller, H. Xia, G. L. Marrs et al., “Allele-specific silencing of dominant disease genes,” Proceedings of the National Academy of Sciences of the United States of America, vol. 100, no. 12, pp. 7195–7200, 2003. View at Publisher · View at Google Scholar · View at Scopus
  36. S. Alves, I. Nascimento-Ferreira, G. Auregan et al., “Allele-specific RNA silencing of mutant ataxin-3 mediates neuroprotection in a rat model of Machado-Joseph disease,” PLoS One, vol. 3, no. 10, Article ID e3341, 2008. View at Publisher · View at Google Scholar · View at Scopus
  37. A. Abdelgany, M. Wood, and D. Beeson, “Allele-specific silencing of a pathogenic mutant acetylcholine receptor subunit by RNA interference,” Human Molecular Genetics, vol. 12, no. 20, pp. 2637–2644, 2003. View at Publisher · View at Google Scholar · View at Scopus
  38. Y. Ohnishi, Y. Tamura, M. Yoshida, K. Tokunaga, and H. Hohjoh, “Enhancement of allele discrimination by introduction of nucleotide mismatches into siRNA in allele-specific gene silencing by RNAi,” PLoS One, vol. 3, no. 5, Article ID e2248, 2008. View at Publisher · View at Google Scholar · View at Scopus
  39. Z. Xie, D. M. Romano, D. M. Kovacs, and R. E. Tanzi, “Effects of RNA interference-mediated silencing of γ-secretase complex components on cell sensitivity to caspase-3 activation,” Journal of Biological Chemistry, vol. 279, no. 33, pp. 34130–34137, 2004. View at Publisher · View at Google Scholar · View at Scopus
  40. Z. Xie, D. M. Romano, and R. E. Tanzi, “Effects of RNAi-mediated silencing of PEN-2, APH-1a, and nicastrin on wild-type vs FAD mutant forms of presenilin,” Journal of Molecular Neuroscience, vol. 25, no. 1, pp. 67–77, 2005. View at Google Scholar · View at Scopus
  41. D. Campion, A. Brice, D. Hannequin et al., “A large pedigree with early-onset Alzheimer's disease: clinical, neuropathologic, and genetic characterization,” Neurology, vol. 45, no. 1, pp. 80–85, 1995. View at Google Scholar · View at Scopus
  42. D. Campion, J. M. Flaman, A. Brice et al., “Mutations of the presenilin I gene in families with early-onset Alzheimer's disease,” Human Molecular Genetics, vol. 4, no. 12, pp. 2373–2377, 1995. View at Google Scholar · View at Scopus
  43. E. I. Rogaev, R. Sherrington, E. A. Rogaeva et al., “Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene,” Nature, vol. 376, no. 6543, pp. 775–778, 1995. View at Google Scholar · View at Scopus
  44. D. Campion, C. Dumanchin, D. Hannequin et al., “Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum,” American Journal of Human Genetics, vol. 65, no. 3, pp. 664–670, 1999. View at Publisher · View at Google Scholar · View at Scopus
  45. G. Raux, L. Guyant-Maréchal, C. Martin et al., “Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update,” Journal of Medical Genetics, vol. 42, no. 10, pp. 793–795, 2005. View at Publisher · View at Google Scholar · View at Scopus
  46. T. Ikeuchi, H. Kaneko, A. Miyashita et al., “Mutational analysis in early-onset familial dementia in the Japanese population: the role of PSEN1 and MAPT R406W mutations,” Dementia and Geriatric Cognitive Disorders, vol. 26, no. 1, pp. 43–49, 2008. View at Publisher · View at Google Scholar · View at Scopus
  47. M. H. Caruthers, “Gene synthesis machines: DNA chemistry and its uses,” Science, vol. 230, no. 4723, pp. 281–285, 1985. View at Google Scholar · View at Scopus
  48. B. Nawrot and E. Sochacka, “Preparation of short interfering RNA containing the modified nucleosides 2-thiouridine, pseudouridine, or dihydrouridine,” Current Protocols in Nucleic Acid Chemistry, no. 37, pp. 16.2.1–16.2.16, 2009. View at Publisher · View at Google Scholar · View at Scopus
  49. D. H. Kim and J. J. Rossi, “Strategies for silencing human disease using RNA interference,” Nature Reviews Genetics, vol. 8, no. 3, pp. 173–184, 2007. View at Publisher · View at Google Scholar · View at Scopus
  50. G. Meister and T. Tuschl, “Mechanisms of gene silencing by double-stranded RNA,” Nature, vol. 431, no. 7006, pp. 343–349, 2004. View at Publisher · View at Google Scholar · View at Scopus
  51. Y. L. Chiu and T. M. Rana, “RNAi in human cells: basic structural and functional features of small interfering RNA,” Molecular Cell, vol. 10, no. 3, pp. 549–561, 2002. View at Publisher · View at Google Scholar · View at Scopus
  52. K. Sipa, E. Sochacka, J. Kazmierczak-Baranska et al., “Effect of base modifications on structure, thermodynamic stability, and gene silencing activity of short interfering RNA,” RNA, vol. 13, no. 8, pp. 1301–1316, 2007. View at Publisher · View at Google Scholar · View at Scopus
  53. B. Nawrot and K. Sipa, “Chemical and structural diversity of siRNA molecules,” Current Topics in Medicinal Chemistry, vol. 6, no. 9, pp. 913–925, 2006. View at Publisher · View at Google Scholar · View at Scopus
  54. M. Sierant, K. Kubiak, J. Kazmierczak-Baranska, M. Warashina, T. Kuwabara, and B. Nawrot, “Evaluation of BACE1 silencing in cellular models,” International Journal of Alzheimer's Disease, vol. 2009, Article ID 257403, 10 pages, 2009. View at Publisher · View at Google Scholar
  55. B. Nawrot, M. Sierant, and A. Paduszynska, “Emerging drugs and targets for Alzheimer's disease,” in RNA Interference of Genes Related to Alzheimer's Disease, A. Martinez, Ed., vol. 2, chapter 26, pp. 230–266, RSC Publishing, 2009. View at Google Scholar
  56. C. Cecchi, C. Fiorillo, S. Sorbi et al., “Oxidative stress and reduced antioxidant defenses in peripheral cells from familial Alzheimer's patients,” Free Radical Biology and Medicine, vol. 33, no. 10, pp. 1372–1379, 2002. View at Publisher · View at Google Scholar · View at Scopus
  57. M. Sierant, K. Kubiak, J. Kazmierczak-Baranska et al., “RNA interference in silencing of genes of Alzheimer's disease in cellular and rat brain models,” Nucleic Acids Symposium Series, no. 52, pp. 41–42, 2008. View at Google Scholar
  58. P. F. Agris, H. Sierzputowska-Gracz, W. Smith, A. Malkiewicz, E. Sochacka, and B. Nawrot, “Thiolation of uridine carbon-2 restricts the motional dynamics of the transfer RNA wobble position nucleoside,” Journal of the American Chemical Society, vol. 114, no. 7, pp. 2652–2656, 1992. View at Google Scholar · View at Scopus
  59. D. Davis, “Biophysical and conformational properties of modified nucleotides in RNA (magnetic resonance studies),” in Modification and Editing of RNA, H. Grosjean and B. Benne, Eds., pp. 85–102, ASM Press, Washington, DC, USA, 1998. View at Google Scholar
  60. S. M. Freier, R. Kierzek, and J. A. Jaeger, “Improved free-energy parameters for predictions of RNA duplex stability,” Proceedings of the National Academy of Sciences of the United States of America, vol. 83, no. 24, pp. 9373–9377, 1986. View at Google Scholar
  61. E. M. Westerhout and B. Berkhout, “A systematic analysis of the effect of target RNA structure on RNA interference,” Nucleic Acids Research, vol. 35, no. 13, pp. 4322–4330, 2007. View at Publisher · View at Google Scholar · View at Scopus