Advances with RNA interference in Alzheimer's disease research

Drug Design, Development and Therapy

Volumn 7, Issue , 2013, Pages 117-125

  Chen, Shun ^a,b   Ge, Xuemei ^b   Chen, Yinghui ^c   Lv, Nan ^b   Liu, Zhenguo ^a   Yuan, Weien ^b  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b SHANGHAI JIAO TONG UNIVERSITY   (China)

^c FUDAN UNIVERSITY   (China)

Author keywords

amyloid; Amyloid precursor protein; RNAi; Tau

Indexed keywords

ADAM PROTEIN; ALDICARB; AMYLOID BETA PROTEIN; PROTEIN TYROSINE KINASE; SMALL INTERFERING RNA;

ALZHEIMER DISEASE; ENDOCYTOSIS; ENDOPLASMIC RETICULUM; ENZYME ACTIVITY; GOLGI COMPLEX; HUMAN; MEDICAL RESEARCH; NERVE CELL PLASTICITY; NONHUMAN; PROTEIN ANALYSIS; PROTEIN CLEAVAGE; PROTEIN FUNCTION; PROTEIN METABOLISM; PROTEIN PHOSPHORYLATION; PROTEIN PROCESSING; REVIEW; RNA INTERFERENCE; SIGNAL TRANSDUCTION; SYNAPSE; TRANS GOLGI NETWORK; TREATMENT RESPONSE;

Â-AMYLOID; AMYLOID PRECURSOR PROTEIN; RNAI; TAU;

ALZHEIMER DISEASE; ANIMALS; BASE SEQUENCE; DISEASE PROGRESSION; HUMANS; MOLECULAR TARGETED THERAPY; MUTATION; RNA; RNA INTERFERENCE; RNA, SMALL INTERFERING;

EID: 84874374889     PISSN: 11778881     EISSN: None     Source Type: Journal    
DOI: 10.2147/DDDT.S40229     Document Type: Review

References (97)

1. Alzheimer A. Über eine eigenartige Erkrankung der Hirnrinde [Concerning a novel disease of the cortex]. Allgemeine Zeitschrift fur Psychiatrie und Psychisch-gerichtliche Medizin. 1907;64:146-148. German.
2. Blennow K, de Leon MJ, Zetterberg H. Alzheimer's disease. Lancet. 2006;368(9533):387-403.
3. Citron M. Alzheimer's disease: strategies for disease modification. Nat Rev Drug Discov. 2010;9(5):387-398.
4. Glenner GG, Murphy MA. Amyloidosis of the nervous system. J Neurol Sci. 1989;94(1-3):1-28.
5. Goedert M, Wischik CM, Crowther RA, Walker JE, Klug A. Cloning and sequencing of the cDNA encoding a core protein of the paired helical filament of Alzheimer disease: identification as the microtubule-associated protein tau. Proc Natl Acad Sci U S A. 1988;85(11):4051-4055.
6. Goedert M, Spillantini MG, Jakes R, Rutherford D, Crowther RA. Multiple isoforms of human microtubule-associated protein tau: sequences and localization in neurofibrillary tangles of Alzheimer's disease. Neuron. 1989;3(4):519-526.
7. Hardy JA, Selkoe DJ. The amyloid hypothesis of Alzheimer's disease: progress and problems on the road to therapeutics. Science. 2002;297(5580):353-356.
8. Hardy J. Alzheimer's disease: the amyloid cascade hypothesis: an update and reappraisal. J Alzheimers Dis. 2006;9(Suppl 3):151-153.
9. Golde TE, Petrucelli L, Lewis J. Targeting Abeta and tau in Alzheimer's disease, an early interim report. Exp Neurol. 2010;223(2):252-266.
10. Fire A, Xu S, Montgomery MK, Kostas SA, Driver SE, Mello CC. Potent and specific genetic interference by double-stranded RNA in Caenorhabditis elegans. Nature. 1998;391(6669):806-811.
11. Daneholt B. Advanced information: RNA interference. Nobelprize. org [website on Internet]. 2012. Available from: http://www.nobelprize.org/nobel_prizes/medicine/laureates/2006/advanced.html. Accessed November 8, 2012.
12. Seyhan AA, Rya TE. RNAi screening for the discovery of novel modulators of human disease. Curr Pharm Biotechnol. 2010;11(7):735-756.
13. Davidson BL, Boudreau RL. RNA interference: a tool for querying nervous system function and an emerging therapy. Neuron. 2007;53(6):781-788.
14. Gonzalez-Alegre P, Paulson HL. Technology insight: therapeutic RNA interference-how far from the neurology clinic? Nat Clin Pract Neurol. 2007;3(7):394-404.
15. Lingor P, Bähr M. Targeting neurological disease with RNAi. Mol Biosyst. 2007;3(11):773-780.
16. Perrimon N, Ni JQ, Perkins L. In vivo RNAi: today and tomorrow. Cold Spring Harb Perspect Biol. 2010;2(8):a003640.
17. Priller C, Bauer T, Mitteregger G, Krebs B, Kretzschmar HA, Herms J. Synapse formation and function is modulated by the amyloid precursor protein. J Neurosci. 2006;26(27):7212-7221.
18. Turner PR, O'Connor K, Tate WP, Abraham WC. Roles of amyloid precursor protein and its fragments in regulating neural activity, plasticity and memory. Prog Neurobiol. 2003;70:1-32.
19. Duce JA, Tsatsanis A, Cater MA, et al. Iron-export ferroxidase activity of β-amyloid precursor protein is inhibited by zinc in Alzheimer's disease. Cell. 2010;142(6):857-867.
20. Zheng H, Koo EH. The amyloid precursor protein: beyond amyloid. Mol Neurodegener. 2006;1:5.
21. Forman MS, Trojanowski JQ, Lee VM. Neurodegenerative diseases: a decade of discoveries paves the way for therapeutic breakthroughs. Nat Med. 2004;10(10):1055-1063.
22. LaFerla FM, Green KN, Oddo S. Intracellular amyloid-beta in Alzheimer's disease. Nat Rev Neurosci. 2007;8(7):499-509.
23. Chyung AS, Greenberg BD, Cook DG, Doms RW, Lee VM. Novel beta-secretase cleavage of beta-amyloid precursor protein in the endoplasmic reticulum/intermediate compartment of NT2N cells. J Cell Biol. 1997;138(3):671-680.
24. Xu H, Sweeney D, Wang R, et al. Generation of Alzheimer beta-amyloid protein in the trans-Golgi network in the apparent absence of vesicle formation. Proc Natl Acad Sci U S A. 1997;94(8):3748-3752.
25. Koo EH, Squazzo SL. Evidence that production and release of amyloid beta-protein involves the endocytic pathway. J Biol Chem. 1994;269(26):17386-17389.
26. Capell A, Steiner H, Willem M, et al. Maturation and pro-peptide cleavage of beta-secretase. J Biol Chem. 2000;275(40):30849-30854.
27. Huse JT, Pijak DS, Leslie GJ, Lee VM, Doms RW. Maturation and endosomal targeting of beta-site amyloid precursor protein-cleaving enzyme. The Alzheimer's disease beta-secretase. J Biol Chem. 2000;275(43):33729-33737.
28. Bennett BD, Denis P, Haniu M, et al. A furin-like convertase mediates propeptide cleavage of BACE, the Alzheimer's beta-secretase. J Biol Chem. 2000;275(48):33712-33717.
29. Creemers JW, Ines Dominguez D, Plets E, et al. Processing of beta-secretase by furin and other members of the proprotein convertase family. J Biol Chem. 2001;276(6):4211-4217.
30. Koh YH, von Arnim CA, Hyman BT, Tanzi RE, Tesco G. BACE is degraded via the lysosomal pathway. J Biol Chem. 2005;280(37):32499-32504.
31. Walter J, Fluhrer R, Hartung B, et al. Phosphorylation regulates intracellular trafficking of beta-secretase. J Biol Chem. 2001;276(18):14634-14641.
32. Vassar R, Bennett BD, Babu-Khan S, et al. Beta-secretase cleavage of Alzheimer's amyloid precursor protein by the transmembrane aspartic protease BACE. Science. 1999;286(5440):735-741.
33. Choy RW, Cheng Z, Schekman R. Amyloid precursor protein (APP) traffics from the cell surface via endosomes for amyloid β (Aβ) production in the trans-Golgi network. Proc Natl Acad Sci U S A. 2012;109(30):E2077-E2082.
34. Finan GM, Okada H, Kim TW. BACE1 retrograde trafficking is uniquely regulated by the cytoplasmic domain of sortilin. J Biol Chem. 2011;286(14):12602-12616.
35. Hoyer S. Glucose metabolism and insulin receptor signal transduction in Alzheimer disease. Eur J Pharmacol. 2004;490(1-3):115-125.
36. Zou L, Wang Z, Shen L, et al. Receptor tyrosine kinases positively regulate BACE activity and Amyloid-beta production through enhancing BACE internalization. Cell Res. 2007;17(5):389-401.
37. Bonifacino JS. The GGA proteins: adaptors on the move. Nat Rev Mol Cell Biol. 2004;5(1):33-32.
38. Wahle T, Prager K, Raffler N, Haass C, Famulok M, Walter J. GGA proteins regulate retrograde transport of BACE1 from endosomes to the trans-Golgi network. Mol Cell Neurosci. 2005;29(3):453-461.
39. He X, Li F, Chang WP, Tang J. GGA proteins mediate the recycling pathway of memapsin 2 (BACE). J Biol Chem. 2005;280(12):11696-11703.
40. Tesco G, Koh YH, Kang EL, et al. Depletion of GGA3stabilizes BACE and enhances beta-secretase activity. Neuron. 2007;54(5):721-737.
41. Cuervo AM. Autophagy: in sickness and in health. Trends Cell Biol. 2004;14(2):70-77.
42. Chu CT. Autophagic stress in neuronal injury and disease. J Neuropathol Exp Neurol. 2006;65(5):423-432.
43. Yu WH, Kumar A, Peterhoff C, et al. Autophagic vacuoles are enriched in amyloid precursor protein-secretase activities: implications for beta-amyloid peptide over-production and localization in Alzheimer's disease. Int J Biochem Cell Biol. 2004;36(12):2531-2540.
44. Yu WH, Cuervo AM, Kumar A, et al. Macroautophagy-a novel Beta-amyloid peptide-generating pathway activated in Alzheimer's disease. J Cell Biol. 2005;171(1):87-98.
45. Florez-McClure ML, Hohsfield LA, Fonte G, Bealor MT, Link CD. Decreased insulin-receptor signaling promotes the autophagic degradation of beta-amyloid peptide in C. elegans. Autophagy. 2007;3(6):569-580.
46. Hornsten A, Lieberthal J, Fadia S, et al. APL-1, a Caenorhabditis elegans protein related to the human beta-amyloid precursor protein, is essential for viability. Proc Natl Acad Sci U S A. 2007;104(6):1971-1976.
47. Wiese M, Antebi A, Zheng H. Intracellular trafficking and synaptic function of APL-1in Caenorhabditis elegans. PLoS One. 2010;5(9):pii:e12790.
48. Fahrenholz F. Alpha-secretase as a therapeutic target. Curr Alzheimer Res. 2007;4(4):412-417.
49. Allinson TM, Parkin ET, Turner AJ, Hooper NM. ADAMs family members as amyloid precursor protein alpha-secretases. J Neurosci Res. 2003;74(3):342-352.
50. Kuhn PH, Wang H, Dislich B, et al. ADAM10 is the physiologically relevant, constitutive alpha-secretase of the amyloid precursor protein in primary neurons. Embo J. 2010;29(17):3020-3032.
51. Dando PM, Brown MA, Barrett AJ. Human thimet oligopeptidase. Biochem J. 1993;294(Pt 2):451-457.
52. Knight CG, Dando PM, Barrett AJ. Thimet oligopeptidase specificity: evidence of preferential cleavage near the C-terminus and product inhibition from kinetic analysis of peptide hydrolysis. Biochem J. 1995;308(Pt 1):145-150.
53. Shrimpton CN, Smith AI. Soluble neutral metallopeptidases: physiological regulators of peptide action. J Pept Sci. 2000;6(6):251-263.
54. Shrimpton CN, Smith AI, Lew RA. Soluble metalloendopeptidases and neuroendocrine signaling. Endocr Rev. 2002;23(5):647-664.
55. Koike H, Seki H, Kouchi Z, et al. Thimet oligopeptidase cleaves the full-length Alzheimer amyloid precursor protein at a beta-secretase cleavage site in COS cells. J Biochem. 1999;126(1):235-242.
56. Yamin R, Malgeri EG, Sloane JA, McGraw WT, Abraham CR. Metalloendopeptidase EC 3.4.24.15 is necessary for Alzheimer's amyloid-beta peptide degradation. J Biol Chem. 1999;274(26):18777-18784.
57. Pollio G, Hoozemans JJ, Andersen CA, et al. Increased expression of the oligopeptidase THOP1 is a neuroprotective response to Abeta toxicity. Neurobiol Dis. 2008;31(1):145-158.
58. Puglielli L, Konopka G, Pack-Chung E, et al. Acyl-coenzyme A: cholesterol acyltransferase modulates the generation of the amyloid beta-peptide. Nat Cell Biol. 2001;3(10):905-912.
59. Hutter-Paier B, Huttunen HJ, Puglielli, et al. The ACAT inhibitor CP-113,818markedly reduces amyloid pathology in a mouse model of Alzheimer's disease. Neuron. 2004;44(2):227-238.
60. Huttunen HJ, Greco G, Kovacs DM. Knockdown of ACAT-1 reduces amyloidogenic processing of APP. FEBS Lett. 2007;581(8):1688-1692.
61. Liu B, Moloney A, Meehan S, et al. Iron promotes the toxicity of amyloid beta peptide by impeding its ordered aggregation. J Biol Chem. 2011;286(6):4248-4256.
62. Weingarten MD, Lockwood AH, Hwo SY, Kirschner MW. A protein factor essential for microtubule assembly. Proc Natl Acad Sci U S A. 1975;72(5):1858-1862.
63. Alonso A, Zaidi T, Novak M, Grundke-Iqbal I, Iqbal K. Hyperphosphorylation induces self-assembly of tau into tangles of paired helical filaments/straight filaments. Proc Natl Acad Sci U S A. 2001;98(12):6923-6928.
64. Guthrie CR, Schellenberg GD, Kraemer BC. SUT-2 potentiates tau-induced neurotoxicity in Caenorhabditis elegans. Hum Mol Genet. 2009;18(10):1825-1838.
65. Guthrie CR, Greenup L, Leverenz JB, Kraemer BC. MSUT2 is a determinant of susceptibility to tau neurotoxicity. Hum Mol Genet. 2011;20(10):1989-1999.
66. Baumann K, Mandelkow EM, Biernat J, Piwnica-Worms H, Mandelkow E. Abnormal Alzheimer-like phosphorylation of tau-protein by cyclin-dependent kinases cdk2 and cdk5. FEBS Lett. 1993;336(3):417-424.
67. Paudel HK, Lew J, Ali Z, Wang JH. Brain proline-directed protein kinase phosphorylates tau on sites that are abnormally phosphorylated in tau associated with Alzheimer's paired helical filaments. J Biol Chem, 1993;268(31):23512-23518.
68. Piedrahita D, Hernández I, López-Tobón A, et al. Silencing of CDK5 reduces neurofibrillary tangles in transgenic alzheimer's mice. J Neurosci. 2010;30(42):13966-13976.
69. Haass C, Selkoe DJ. Soluble protein oligomers in neurodegeneration: lessons from the Alzheimer's amyloid beta-peptide. Nat Rev Mol Cell Biol. 2007;8(2):101-112.
70. Shankar GM, Li S, Mehta TH, et al. Amyloid-beta protein dimers isolated directly from Alzheimer's brains impair synaptic plasticity and memory. Nat Med. 2008;14(8):837-842.
71. Jin M, Shepardson N, Yang T, Chen G, Walsh D, Selkoe DJ. Soluble amyloid beta-protein dimers isolated from Alzheimer cortex directly induce Tau hyperphosphorylation and neuritic degeneration. Proc Natl Acad Sci U S A. 2011;108(14):5819-5824.
72. Schmetsdorf S, Arnold E, Holzer M, Arendt T, Gärtner U. A putative role for cell cycle-related proteins in microtubule-based neuroplasticity. Eur J Neurosci. 2009;29(6):1096-1107.
73. Heldin CH, Miyazono K, ten Dijke P. TGF-beta signalling from cell membrane to nucleus through SMAD proteins. Nature. 1997;390(6659):465-471.
74. Ueberham U, Ueberham E, Gruschka H, Arendt T. Altered subcellular location of phosphorylated Smads in Alzheimer's disease. Eur J Neurosci. 2006;24(8):2327-2334.
75. Ueberham U, Hilbrich I, Ueberham E, et al. Transcriptional control of cell cycle-dependent kinase 4 by Smad proteins-implications for Alzheimer's disease. Neurobiol Aging. 2012;33(12):2827-2840.
76. Song B, Davis K, Liu XS, Lee HG, Smith M, Liu X. Inhibition of Polo-like kinase 1 reduces beta-amyloid-induced neuronal cell death in Alzheimer's disease. Aging (Albany N Y). 2011;3(9):846-851.
77. Wiese M, Antebi A, Zheng H. Regulation of neuronal APL-1 expression by cholesterol starvation. PLoS One. 2012;7(2):e32038.
78. Borchelt DR, Thinakaran G, Eckman CB, et al. Familial Alzheimer's disease-linked presenilin 1 variants elevate Abeta1-42/1-40 ratio in vitro and in vivo. Neuron. 1996;17(5):1005-1013.
79. Duff K, Eckman C, Zehr C, et al. Increased amyloid-beta42(43) in brains of mice expressing mutant presenilin 1. Nature. 1996;383(6602):710-713.
80. Bali J, Gheinani AH, Zurbriggen S, Rajendran L. Role of genes linked to sporadic Alzheimer's disease risk in the production of β-amyloid peptides. Proc Natl Acad Sci U S A. 2012;109(38):15307-15311.
81. Trimmer PA, Swerdlow RH, Parks JK, et al. Abnormal mitochondrial morphology in sporadic Parkinson's and Alzheimer's disease cybrid cell lines. Exp Neurol. 2000;162(1):37-50.
82. Shin HW, Shinotsuka C, Torii S, Murakami K, Nakayama K. Identification and subcellular localization of a novel mammalian dynamin-related protein homologous to yeast Vps1p and Dnm1p. J Biochem. 1997;122(3):525-530.
83. Wang X, Su B, Fujioka H, Zhu X. Dynamin-like protein 1 reduction underlies mitochondrial morphology and distribution abnormalities in fibroblasts from sporadic Alzheimer's disease patients. Am J Pathol. 2008;173(2):470-482.
84. Burnett JC, Rossi JJ, Tiemann K. Current progress of siRNA/shRNA therapeutics in clinical trials. Biotechnol J. 2011;6(9):1130-1146.
85. Burnett JC, Rossi JJ. RNA-based therapeutics: current progress and future prospects. Chem Biol. 2012;19(1):60-71.
86. Rodriguez-Lebron E, Paulson HL. Allele-specific RNA interference for neurological disease. Gene Ther. 2006;13(6):576-581.
87. Rodríguez-Lebrón E, Gouvion CM, Moore SA, Davidson BL, Paulson HL. Allele-specific RNAi mitigates phenotypic progression in a transgenic model of Alzheimer's disease. Mol Ther. 2009;17(9):1563-1573.
88. Alvarez-Erviti L, Seow Y, Yin H, Betts C, Lakhal S, Wood MJ. Delivery of siRNA to the mouse brain by systemic injection of targeted exosomes. Nat Biotechnol. 2011;29(4):341-345.
89. Lublin A, Isoda F, Patel H, et al. FDA-approved drugs that protect mammalian neurons from glucose toxicity slow aging dependent on cbp and protect against proteotoxicity. PLoS One. 2011;6(11):e27762.
90. Azorsa DO, Robeson RH, Frost D, et al. High-content siRNA screening of the kinome identifies kinases involved in Alzheimer's disease-related tau hyperphosphorylation. BMC Genomics. 2010;11:25.
91. Lambert JC, Amouyel P. Genetic heterogeneity of Alzheimer's disease: complexity and advances. Psychoneuroendocrinology. 2007;32 Suppl 1:S62-S70.
92. Whitehead KA, Langer R, Anderson DG. Knocking down barriers: advances in siRNA delivery. Nat Rev Drug Discov. 2009;8(2):129-138.
93. Alzheimer's Association. Alzheimer's disease facts and figures. Alzheimers Dement. 2012;8(2):131-168.
94. Gomase VS, Tagore S. RNAi-a tool for target finding in new drug development. Curr Drug Metab. 2008;9(3):241-244.
95. Seyhan AA. RNAi: a potential new class of therapeutic for human genetic disease. Hum Genet. 2011;130(5):583-605.
96. Bumcrot D, Manoharan M, Koteliansky V, Sah DW. RNAi therapeutics: a potential new class of pharmaceutical drugs. Nat Chem Biol. 2006;2(12):711-719.
97. Brunden KR, Trojanowski JQ, Lee VM. Advances in tau-focused drug discovery for Alzheimer's disease and related tauopathies. Nat Rev Drug Discov. 2009;8(10):783-793.