Down's syndrome and Alzheimer's disease: Two sides of the same coin

Future Neurology

Volumn 3, Issue 1, 2008, Pages 29-37

  Potter, Huntington ^a  

^a UNIVERSITY OF SOUTH FLORIDA   (United States)

Author keywords

Aging; Alzheimer's disease; Aneuploidy; Chromosome segregation; Down's syndrome; FISH; Mitosis; Presenilin

Indexed keywords

AMYLOID PRECURSOR PROTEIN; PRESENILIN 1; PRESENILIN 2; TAU PROTEIN;

ALZHEIMER DISEASE; ANEUPLOIDY; CELL CYCLE M PHASE; CHROMOSOME ANALYSIS; CHROMOSOME SEGREGATION; DOWN SYNDROME; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; LABORATORY TEST; MITOSIS; MOLECULAR MECHANICS; MOSAICISM; NEUROPATHOLOGY; NONHUMAN; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEIN PHOSPHORYLATION; REVIEW; TRANSGENIC MOUSE; TRISOMY 21;

EID: 37649016158     PISSN: 14796708     EISSN: None     Source Type: Journal    
DOI: 10.2217/14796708.3.1.29     Document Type: Review

References (91)

1. Potter H: Beyond β protein - the essential role of inflammation in Alzheimer amyloid formation. In: Inflammatory Events in Neurodegeneration. Bondy SC, Campell A (Eds). Prominent Press, Victoria, Australia (2001).
2. Potter H, Wefes IM, Nilsson LNG: The inflammation-induced pathological chaperones ACT and apoE are necessary catalysts of Alzheimer amyloid formation. Neurobiol. Aging 22, 923-930 (2001).
3. Hardy J, Selkoe J: The amyloid hypothesis of Alzheimer's disease: progress and problems on the road to therapeutics. Science 297, 353-356 (2002).
4. Lee HG, Casadesus G, Zhu Y, Takeda A, Perry G, Smith MA: Challenging the amyloid cascade hypothesis: senile plaques and amyloid-β as protective adaptations to Alzheimer disease. Ann. NY Acad. Sci. 1019, 1-4 (2004).
5. Hardy J: Alzheimer's disease: the amyloid cascade hypothesis: an update and reappraisal. J. Alzheimers Dis. 9(Suppl. 3), 151-153 (2006).
6. Olson MI, Shaw CM: Presenile dementia and Alzheimer's disease in mongolism. Brain 92, 147-156 (1969).
7. Glenner G, Wong CW: Alzheimer disease and Down's syndrome: sharing of a unique cerebrovascular amyloid fibril protein. Biochem. Biophys. Res. Commun. 122, 1131-1135 (1984).
8. Wisniewski HM, Rabe A, Wisniewski KE: Neuropathology and dementia in people with Down's symdrome. In: Molecular Neuropathology of Aging. Davies P, Finch C (Eds). Cold Spring Harbor Laboratory, NY, USA 399-413 (1988).
9. Lemere CA, Blusztajn JK, Yamaguchi H, Wisniewski T, Saido TC, Selkoe DJ: Sequence of deposition of heterogeneous amyloid β-peptides and APO E in Down syndrome: implications for initial event in amyloid plaque formation. Neurobiol. Dis. 3, 16-32 (1996).
10. Epstein CJ: The consequences of chromosome imbalance. Am. J. Med. Genet. (suppl. 7), 31-37 (1990).
11. Potter H: Review and hypothesis: Alzheimer disease and Down syndrome - chromosome 21 nondisjunction may underlie both disorders. Am. J. Hum. Genet. 48, 1192-1200 (1991).
12. Heston LL, Mastri AR, Anderson VE et al.: Dementia of the Alzheimer type. Arch. Gen. Psychiat. 38, 1084-1090 (1981).
13. Heyman A, Wilkinson W, Hurwitz B et al.: Alzheimer's disease: genetic aspects and associated clinical disorders. Ann. Neurol. 14, 507-515 (1983).
14. Whalley LJ, Carothors AD, Collyer S et al.: A study of familial factors in Alzheimer's disease. Brit. J. Psychiat. 140, 249-256 (1982).
15. Amaducci LA, Fratiglioni L, Rocca WA et al.: Risk factors for clinically diagnosed Alzheimer's disease: a case-control study of an Italian population. Neurology 36, 922-931 (1986).
16. Chandra V, Philipose V, Bell PA et al.: Case-control study of late onset 'probable Alzheimer's disease.' Neurology 37, 1295-1300 (1987).
17. Schupf N, Kapell D, Lee JH et al.: Increased risk of Alzheimer's disease in mothers of adults with Down's syndrome. Lancet 344, 353-356 (1994).
18. Schapiro MB, Kumar A, White B et al.: Alzheimer's disease (AD) in mosaic/translocation Down's syndrome (DS) without mental retardation. Neurology 39(1), 169 (1989).
19. Rowe IF, Ridler MAC, Gibberd FB: Presenile dementia associated with mosaic trisomy 21 in a patient with a Down syndrome child. Lancet 2 (8656), 229 (1989).
20. Hardy J, Goate A, Owen M et al.: Presenile dementia associated with mosaic trisomy 21 in a patient with a Down syndrome child. Lancet 2(8665), 743 (1989).
21. Potter H, Geller LN: Alzheimer's disease, Down's syndrome, and chromosome segregation. Lancet 348(9019), 66 (1996).
22. Geller LN, Potter H: Chromosome missegregation and trisomy 21 mosaicism in Alzheimer's disease. Neurobiol Dis. 6, 167-179 (1999).
23. Schellenberg GD, Bird TD, Wijsman EM et al.: Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14. Science 258, 668-671 (1993).
24. Sherrington R, Rogaev EI, Liang Y et al.: Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 375, 754-760 (1995).
25. Levy-Lahad E, Wijsman EM, Nemens E et al.: A familial Alzheimer's disease locus on chromosome 1. Science 269(5226), 970-973 (1995).
26. Levy-Lahad E, Wasco W, Poorkaj P et al.: Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 269(5226), 973-977 (1995).
27. Rogaev EI, Sherrington R, Rogaeva EA 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 376, 775-778 (1995).
28. Li J, Ma J, Porter H: Identification and expression analysis of a potential familial Alzheimer's disease gene on chromosome 1 related to AD3. Proc. Natl Acad. Sci. USA 92, 12180-12184 (1995).
29. Migliore L, Testa A, Scarpato R et al., Spontaneous and induced aneuploidy in peripheral blood lymphocytes of patients with Alzheimer's disease. Hum. Genet. 101, 299-305 (1997).
30. Migliore L, Botto N, Scarpato R et al.: Preferential occurrence of chromosome 21 malsegregation in peripheral blood lymphocytes of Alzheimer's disease patients. Cytogenet. Cell Genet. 87, 41-46 (1999).
31. Yang Y, Geldmacher DS, Herrup K: DNA replication precedes neuronal cell death in Alzheimer's disease. J. Neurosci. 21, 2661-2668 (2001).
32. Mosch B, Morawski M, Mittag A, Lenz D, Tarnok A, Arendt T: Aneuploidy and DNA replication in the normal human Brain and Alzheimer's disease. Neuroscience 27(26), 6859-6867 (2007).
33. Sleegers K, Brouwers N, Gijselinck I et al.: APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy. Brain 129(Pt 11), 2977-2983.
34. Rovelet-Lecrux A, Hannequin D, Raux G et al.: APP locus duplication causes aurosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat. Genet. 38(1), 24-26 (2006).
35. Potter H: The role of the presenilins and chromosome instability in Alzheimer's disease. In: The Cell Cycle and Neuronal Cell Death. Copani A, Nicoletti F (Eds). Landes Bioscience, TX, USA (2004)
36. Potter H, Ma J, Das S et al.: Beyond β-protein: lew steps in the pathogenic pathway to Alzheimer's disease. In: Research Advances in Alzheimer's Disease and Related Disordery. Iqbal K, Mortimer JA, Winblad B, Wisniewski HM (Eds). John Wiley and Sons Ltd, NJ, USA (1995).
37. Fitzgerald PH, Archer SA, Morris CM: Evidence for the repeated primary non-disjunction of chromosome 21 as a result of premature centromere division (PCD). Hum. Gene 72, 58-62 (1986).
38. Suzuki T, Oishi M, Marshak DR et al. Cell cycle-dependent regulation of the phosphorylation and metabolism of the Alzheimer amyloid precursor protein. EMBO J. 13, 1114-1122 (1994).
39. Pope WB, Lambert MP, Leypold B et al.: Microtubule-associated protein tau is hyperphosphorylated during mitosis in the human neuroblastoma cell fine SH-SY5Y. Exper. Neurol. 126, 185-194 (1994).
40. Preuss U, Döring F, Illenberger S et al.: Cell cycle-dependent phosphorylation and microtubule binding of tau protein stably transfected in Chinese hamster ovary cells. Mol. Biol. Cell 6, 1397-1410 (1995).
41. Padmanabhan J, Potter H: Cell cycle dependent phosphorylation and processing of amyloid precursor protein. Presented at: Society for Neuroscience Annual Meeting. San Diego, CA, USA, 3-7 November 2007 (Abstract 331.14).
42. Arendt T, Holzer M, Grossmann A et al.: Increased expression and subcellular translocation of the mitogen activated protein kinase and mitogen-activated protein kinase in Alzheimer's disease. Neuroscience 68, 5-18 (1995).
43. Arendt T, Rodel L, Gartner U et al.: Expression of the cyclin-dependent kinase inhibitor p 16 in Alzheimer's disease. NeuroReport 7, 3047-3049 (1996).
44. Smith TW, Lippa CF: Ki-67 immunoreactivity in Alzheimer's disease and other neurodegenerative disorders. J. Neurapathol. Exp. Neurol. 54(3), 297-303 (1995).
45. Vincent I, Rosado M, Davies P: Mitotic mechanisms in Alzheimer's disease? J. Cell Biol. 132, 413-425 (1996).
46. Vincent I, Jicha G, Rosado M et al.: Aberrant expression of mitotic Cdc2/cyclin B1 kinase in degenerating neurons of Alzheimer's disease brain. J. Neurosci. 17(10), 3588-3598 (1997).
47. Kondratick CM, Vandre DD: Alzheimer's disease neurofibrillary tangles contain mitosis-specific phosphoepitopes. J. Neurochem. 67(6), 2405-2416 (1996).
48. Nagy Z, Esiri MM, Cato AM et al.: Cell cycle markers in the hippocampus in Alzheimer's disease. Acta Neuropathol. 94(1), 6-15 (1997).
49. McShea A, Harris PLR, Webster KR et al.: Abnormal expression of the cell cycle regulators P16 and CDK4 in Alzheimer's disease. Amer. J. Pathol. 150(6), 1933-1939 (1997).
50. Li J, Xu M, Zhou H, Ma J, Potter H: Alzheimer presenilins in the nuclear membrane, interphase kinetochores, and centrosomes suggest a role in chromosome segregation. Cell 90, 917-927 (1997).
51. Annaert WG, Levesque I, Craessaerts K et al.: Presenilin 1 controls γ-secretase processing of amyloid precursor protein in pre-golgi compartments of hippocampal neurons. J. Cell Biol. 147, 277-294 (1999).
52. Honda T, Nihonmatsu N, Yasutake K et al.: Familial Alzheimer's disease-associated mutations block translocation of full-length presenilin 1 to the nuclear envelope. Neurosci. Res. 37, 101-111 (2000).
53. Jeong SJ, Kim HS, Chang KA et al.: Subcellular localization of presenilins during mouse preimplantation development. FASEB J 14(14), 2171-2176 (2000).
54. Janicki SM, Monteiro MJ: Presenilin overexpression arrests cells in the G1 phase of the cell cycle: arrest potentiated by the Alzheimer's disease PS2 (N141I) mutant. Am. J. Pathol. 155, 135-144 (1999).
55. 2+,-binding protein ALG-2 and Alzheimer's disease gene ALG-3. Science 271, 521-525 (1996).
56. Vito P, Walozin B, Ganjei JK et al.: Requirement of the familial Alzheimers disease gene PS2 for apoptosis. Opposing effect of ALG-3. J. Biol. Chem. 271, 31025-31028 (1996).
57. Wolozin B, Iwasaki K, Vito P et al.: Participation of presenilin 2 in apoptosis: enhanced basal activity conferred by an Alzheimer mutation. Science 274, 1710-1713 (1996).
58. Wragg M, Hutton M, Talbot C: Genetic association between intronic polymorphism in presenilin-1 gene and late-onset Alzheimer's disease. Alzheimer's Disease Collaborative Group. Lancet 347(9000), 509-512 (1996).
59. Higuchi S, Muramatsu T, Matsushita S et al.: Presenilin-1 polymorpbism and Alzheimer's disease. Lancet 347, 1186 (1996).
60. Nishiwaki Y, Kamino K, Yoshiiwa A et al.: T/G polymorphism at intron 9 of prcsenilin 1 gene is associated with, but not responsible for sporadic late-onset Alzheimer's disease in Japanese population. Neurosci. Lett. 227, 123-126 (1997).
61. Scott WK, Growdon JH, Roses AD et al.: Presenilin-1 polymorphism and Alzheimer's disease. Lancet 347, 1186-1187 (1996).
62. Petersen MB, Karadima G, Samaritaki M et al.: Association between presenilin-1 polymorphism. and maternal meiosis II errors in Down syndrome. Am. J. Med. Genet. 93, 366-372 (2000).
63. Boeras DI, Granic A. Crespo NC, Rojiani AM, Potter H: Alzheimer's mutant presenilin 1/γ-secretase causes chromosome aneuploidy, including human trisomy 21 Neurobiol. Aging doi:10.1016/ j.neurobiol.aging.2006.10.027 (2007) (Epub ahead of print).
64. 717) mutans. Science 264(5163), 1336-1340 (1994).
65. Yamatsuji T, Matsui T Okamoto T et al.: G protein-mediated neuronal DNA fragmentation induced by familial Alzheimer's disease-associated mutants of APP. Science 272(5266), 1349-1352 (1996).
66. Yamatsuji T, Okamoto T, Takeda S et al.: Expression of V642 APP mutant muses cellular apoptosis as Alzheimer trait-linked phenotype. EMBO J. 15(3), 498-509 (1996).
67. Zhao B, Chrest FJ, Horton WE Jr et al.: Expression of mutant amyloid precursor proteins induces apoptosis in PC12 Cells. J. Neurosci. Res. 47(3), 253-263 (1997).
68. 2+/calmodulin-dependent protein kinase II. Proc. Natl Acad Sci. USA 85, 6218-6221 (1988).
69. Buxbaum JD, Gandy SE, Cicchetti P et al.: Processing of Alzheimer β/A4 amyloid precursor protein: modulation by agents that regulate protein phosphorylation. Proc. Natl Acad. Sci. USA 87, 6003-6006 (1990).
70. Demaerschlack I, Delvaux A, Octave JN: Activation of protein kinase C increases the extracellular release of the transmembrane amyloid protein precursor of Alzheimer's disease. Biochim. Biophys. Acta 1181, 214-218 (1993).
71. Xu H, Sweeney D, Greengard P et al.: Metabolism of Alzheimer β-amyloid precursor protein: regulation by protein kinase A in intact cells and in a cell-free system. Proc. Natl Acad. Sci. USA 93, 4081-4084 (1996).
72. Flajolet M, He G, Heiman M, Lin A, Nairn AC, Greengard P: Regulation of Alzheimer's disease amyloid-β formation by casein kinase I. Proc. Natl Acad. Sci. USA 104(10), 4159-4164 (2007).
73. Autilio-Gambetti L, Morandi A, Tabaton M et al.: The amyloid percursor protein of Alzheimer disease is expressed as a 130 kDa polypepride in various cultured cell types. FEBS Lett. 241, 94-98 (1988).
74. Dranovsky A, Oxberry W, Lyubsky S et al.: APP is associated with mitotic centrosomes and a distinct cytoplasmic network which colocalizes with depolymerized tubulin. Neurobiol. Aging 17, S196 (1996) (Abstract 788).
75. Von der Kammer H, Hanes J, Klaudiny J et al.: A human amyloid precursor-like protein is highly homologous to a mouse sequence-specific DNA-binding protein. DNA Cell Biol. 13(11), 1137-1143 (1994).
76. Rassoulzadegan M, Yang Y, Cuzin F: APLP2, a member of die Alzheimer precursor protein family, is required for correct genomic segregation in dividing mouse cells. EMBO J. 17(16), 4647-4656 (1998).
77. Potter H, Wefes IM, Nilsson LNG: The inflammation-induced pathological chaperones ACT and apoE are necessary catalysts of Alzheimer amyloid formation. Neurobiol. Aging 22, 923-930 (2001).
78. Avramopoulos D, Mikkelsen M, Vassilopoulas D et al.: Apolipoprotein E allele distribution in parents of Dowes syndrome children. Lancet 347, 862-865 (1996).
79. Strittmatter WJ, Roses D: Apolipoprotein E and Alzheimer disease. Proc Natl Acad. Sci. USA 92, 4725-4727 (1995).
80. Uchida IA, Lee CPV, Byrnes EM: Chromosome aberrations in vitro by low doses of radiation: non-disjunction in lymphocytes of young adults. Am. J. Hum. Genet. 27, 419-429 (1975).
81. Busciglio J, Yankner BA: Apoptosis and increased generation of reactive oxygen species in Down's syndrome neurons in vitro. Nature 378, 776-779 (1997).
82. Teller JK, Russo C, DeBusk LM et al.: Presence of soluble amyloid β-peptide precedes amyloid plaque formation in Down's syndrome. Nat. Med. 2(1), 93-95 (1996).
83. LeBlank A: Increased production of 4 kDa. amyloid β peptide in serum-deprived human primary neuron cultures: possible involvement of apoptosis. J. Neurosci. 15, 7837-7846 (1995).
84. Galli C, Piccini A, Ciotti MT et al.: Increased amyloidogenic secretion in cerebellar granule cells undergoing apoptosis. Proc. Natl Acad. Sci. USA 95, 1247-1252 (1998).
85. Griffin WST, Stanley LC, Ling C et al.: Brain interleukin-1 and S100 immunoreactivity elevated in Down's syndrome and Alzheimer's disease. Proc. Natl Acad Sci. USA 86, 7611-7615 (1989).
86. Paula-Barbosa M, Tavares MA, Cadete-Leite A: A quantitative study of frontal cortex dendritic microtubules in patients with Alzheimer's disease. Brain Res. 417(1), 139-142 (1987).
87. Matsuyama SS, Jarvik LF: Hypothesis: microtubules, a key to Alzheimer's disease. Proc. Natl Acad. Sci. USA 86, 8152-8156 (1989).
88. Cash AD, Aliev G, Siedlak SL et al.: Microtubule reduction in Alzheimer's disease and aging is independent of tau filament formation. Ann J. Pathol 162(5), 1623-16237 (2003).
89. Roperch JP, Alvaro V, Prieur S et al.: Inhibition of presenilin 1 expression is promoted by p53, and p21 WAF-1 and results in apoptosis and tumor suppression. Nat. Med. 4, 835-838 (1998).
90. Yia Y, Qian S, Soriano S et al.: Loss of presenilin 1 is associate with enhanced β-catenin signaling and skin tumorigensis. Proc. Natl Acad. Sci. USA 98, 10863-10868 (2001).
91. Scinto LFM, Daffner KR, Dressler D et al.: A potential non-invasive neurobiological test for Alzheimer's disease. Science 266, 1051-1054 (1994).