Amyloidosis and Alzheimer's disease

Advanced Drug Delivery Reviews

Volumn 54, Issue 12, 2002, Pages 1539-1551

  Ghiso, Jorge ^a   Frangione, Blas ^a  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

A ; A PP; Dementia; Familial Alzheimer's disease; Fibrillogenesis; Neurodegeneration; Paired helical filaments

Indexed keywords

BRAIN; CELLS; DEPOSITION; NEUROLOGY; PATIENT TREATMENT;

COGNITIVE AREA;

DISEASES;

AMYLOID;

ALZHEIMER DISEASE; AMYLOIDOSIS; BRAIN REGION; CELL LOSS; COGNITION; DISEASE ASSOCIATION; FAMILIAL DISEASE; HUMAN; INHERITANCE; NERVE CELL; NERVE DEGENERATION; NEUROFIBRILLARY TANGLE; PAIRED HELICAL FILAMENT; PRIORITY JOURNAL; PROTEIN LOCALIZATION; REVIEW; RISK FACTOR; ANIMAL; GENETICS; PATHOLOGY; PROTEIN FOLDING;

ALZHEIMER DISEASE; AMYLOIDOSIS; ANIMALS; HUMANS; PROTEIN FOLDING;

EID: 0037038813     PISSN: 0169409X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0169-409X(02)00149-7     Document Type: Article

References (83)

1. Dobson C.M. Protein misfolding, evolution and disease. Trends Biochem. Sci. 24:1999;329-332.
2. Ferreira S., De Felice F.G. Protein dynamics, folding and misfolding: From basic physical chemistry to human conformational diseases. FEBS Lett. 498:2001;129-134.
3. Thomas P.J., Qu B.-H., Pedersen P.L. Defective protein folding as a basis of human disease. Trends Biochem. Sci. 20:1995;456-459.
4. Martin J.B. Molecular basis of the neurodegenerative disorders. N. Engl. J. Med. 340:1999;1970-1980.
5. Paulson H.L., Bonini N.M., Roth K.A. Polyglutamine disease and neuronal cell death. Proc. Natl. Acad. Sci. USA. 97:2000;12957-12958.
6. Rajagolapan S., Andersen J.K. Alpha synuclein aggregation: is it the toxic gain of function responsible for the neurodegeneration in Parkinson's disease. Mech. Ageing Dev. 122:2001;1499-1510.
7. Cohen F. Protein misfolding and Prion diseases. J. Mol. Biol. 293:1999;313-320.
8. Prusiner S.B. Shattuck lecture: Neurodegenerative diseases and prions. N. Engl. J. Med. 344:2001;1548-1551.
9. Westermark P., Araki S., Benson M., Cohen A., Frangione B., Masters C., Saraiva M., Sipe J., Husby G., Kyle R., Selkoe D. Nomenclature of amyloid fibril proteins. Amyloid. 6:1999;62-66.
10. Huilgol S., Ramnrain N., Carrington P., Leigh I., Black M. Cytokeratins in primary cutaneous amyloidosis. Australas J. Dermatol. 39:1998;81-85.
11. Vidal R., Frangione B., Rostagno A., Mead S., Révész T., Plant G., Ghiso J. A stop-codon mutation in the BRI gene associated with familial British dementia. Nature. 399:1999;776-781.
12. Häggqvist B., Näslund J., Sletten K., Westermark G., Mucchiano G., Tjernberg L., Nordstedt C., Engström U., Westermark P. Medin: An integral fragment of aortic smooth muscle cell-produced lactadherin forms the most common human amyloid. Proc. Natl. Acad. Sci. USA. 96:1999;8669-8674.
13. Vidal R., Révész T., Rostagno A., Kim E., Holton J., Bek T., Bojsen-Møller M., Braendgaard H., Plant G., Ghiso J., Frangione B. A decamer duplication in the 3′ region of the BRI gene originates a new amyloid peptide that is associated with dementia in a Danish kindred. Proc. Natl. Acad. Sci. USA. 97:2000;4920-4925.
14. (110-131) peptides, and its relevance for lattice corneal amyloid dystrophy type I. Biochem. Biophys. Res. Commun. 273:2000;649-653.
15. B. Frangione, T. Revesz, R. Vidal, J. Holton, T. Lashley, H. Houlden, N. Wood, A. Rostagno, G. Plant, J. Ghiso, Familial cerebral amyloid angiopathy related to stroke and dementia, Amyloid J. Prot. Fold. Dis. (2001) Suppl. 1: 36-42.
16. Wisniewski T., Ghiso J., Frangione B. Biology of Aβ amyloid in Alzheimer's disease. Neurobiol. Dis. 4:1997;313-328.
17. Selkoe D.J. Alzheimer's disease: genes, proteins, therapy. Physiol. Rev. 81:2001;741-766.
18. Kang J., Lemaire H.G., Unterbeck A., Salbaum J.M., Masters C.L., Grzeschik K.H., Multhaup G., Beyreuther K., Muller-Hill B. The precursor of Alzheimer's disease amyloid A4 protein resembles a cell-surface receptor. Nature. 325:1987;733-736.
19. Goldgaber D., Lerman M.I., McBride O.W., Saffiotti U., Gajdusek D.C. Characterization and chromosomal localization of a cDNA encoding brain amyloid of Alzheimer's disease. Science. 235:1987;877-880.
20. Robakis N.K., Ramakrishna N., Wolfe G., Wisniewski H.M. Molecular cloning and characterization of a cDNA encoding the neuritic plaque amyloid peptides. Proc. Natl. Acad. Sci. USA. 84:1987;4190-4194.
21. Shoji M., Golde T.E., Ghiso J., Cheung T.T., Estus S., Shaffer L.M., Cai X.D., McKay D.M., Tintner R., Frangione B., Younkin S.G. Production of the Alzheimer amyloid β protein by normal proteolytic processing. Science. 258:1992;126-129.
22. Seubert P., Vigo-Pelfrey C., Esch F., Lee M., Dovey H., Davis D., Sinha S., Schlossmacher M., Whaley J., Swindlehurst C., McCormack R., Wolfert R., Selkoe D.J., Lieberburg I., Schenk D.B. Isolation and quantification of soluble Alzheimer's β peptide from biological fluids. Nature. 359:1992;325-327.
23. Vigo-Pelfrey C., Lee D., Keim P., Lieberburg I., Schenk D.B. Characterization of β-amyloid peptide from human cerebrospinal fluid. J. Neurochem. 61:1993;1965-1968.
24. Ghiso J., Calero M., Matsubara E., Governale S., Chuba J., Beavis R., Wisniewski T., Frangione B. Alzheimer's soluble amyloid β is a normal component of human urine. FEBS Lett. 408:1997;105-108.
25. Tabaton M., Nunzi M.G., Xue R., Usiak M., Autilio-Gambetti L., Gambetti P. Soluble amyloid β-protein is a marker of Alzheimer amyloid in brain but not in cerebrospinal fluid. Biochem. Biophys. Res. Commun. 200:1994;1598-1603.
26. Nästrand J., Schierhorn A., Hellman U., Lannfelt L., Roses A.D., Tjernberg L.O., Silberring J., Gandy S.E., Winblad B., Greengard P., Nordstedt C., Terenius L. Relative abundance of Alzheimer Aβ amyloid peptide variants in Alzheimer disease and normal aging. Proc. Natl. Acad. Sci. USA. 91:1994;8378-8382.
27. Teller J.K., Russo C., DeBusk L.M., Angelini G., Zaccheo D., Dagna-Bricarelli F., Scartezzini P., Bertolini S., Mann D.M., Tabaton M., Gambetti P. Presence of soluble amyloid β-peptide precedes amyloid plaque formation in Down's syndrome. Nat. Med. 2:1996;93-95.
28. Zlokovic B., Martel C., Matsubara E., McComb J.G., Zheng G., McCluskey R.T., Frangione B., Ghiso J. Gp330/megalin: probable role in receptor-mediated transport of apolipoprotein J alone and in a complex with Alzheimer's Amyloid β at the blood-brain and blood-cerebrospinal fluid barriers. Proc. Natl. Acad. Sci. USA. 93:1996;4229-4234.
29. Ghersi-Egea J.-F., Gorevic P., Ghiso J., Frangione B., Patlak C.S., Fenstermacher J. Fate of cerebrospinal fluid-borne amyloid β-peptide: Rapid clearance into blood and appreciable accumulation by cerebral arteries. J. Neurochem. 67:1996;880-883.
30. van Duinen S., Castaño E., Prelli F., Bots G., Luyendijk W., Frangione B. Hereditary cerebral Hemorrhage with amyloidosis in patients of Dutch origin is related to Alzheimer's disease. Proc. Natl. Acad. Sci. USA. 84:1987;5991-5994.
31. Luyendijk W., Schoen J. Intracerebral haematomas. A clinical study of 40 surgical cases. Psychiat. Neurol. Neurochir. 67:1964;445-468.
32. Luyendijk W., Bots G., van der Vlis M., Went L., Frangione B. Hereditary cerebral hemorrhage caused by cortical amyloid angiopathy. J. Neurol. Sci. 85:1988;267-280.
33. Haan J., Roos R., Briet P., Herpers M., Lujendijk W., Bots G. Hereditary cerebral hemorrhage with amyloidosis-Dutch type: clinical characteristics. Clin. Neurol. Neurosurg. 91:1989;285-290.
34. Wattendorff A., Bots G., Went L., Endtz L. Familial cerebral amyloid angiopathy presenting as recurrent cerebral hemorrhage. J. Neurol. Sci. 55:1982;121-135.
35. Levy E., Carman M., Fernandez-Madrid I., Power M., Lieberburg I., van Duinen S., Bots G., Luyendijk W., Frangione B. Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type. Science. 248:1990;1124-1126.
36. Wisniewski T., Ghiso J., Frangione B. Peptides homologous to the amyloid protein of Alzheimer's disease containing a glutamine for glutamic acid substitution have accelerated amyloid fibril formation. Biochem. Biophys. Res. Commun. 173:1991;1247-1254.
37. Miravalle L., Tokuda T., Chiarle R., Giaccone G., Bugiani O., Tagliavini F., Frangione B., Ghiso J. Substitutions at codon 22 of Alzheimer's Aβ peptide induce diverse conformational changes and apoptotic effects in human cerebral endothelial cells. J. Biol. Chem. 275:2000;27110-27116.
38. Melchor J.P., McVoy L., Van Nostrand W.E. Charge alterations of E22 enhance the pathogenic properties of amyloid beta protein. J. Neurochem. 74:2000;2209-2212.
39. Kamino K., Orr H.T., Payami H., Wijsman E.M., Alonso M.E., Pulst S.M., Anderson L., O'dahl S., Nemens E., White J.A., Sadovnick A.D., Ball M.J., Kaye J., Warren A., McInnis M., Antonarkis S.E., Korenberg J.R., Sharama V., Kukull W., Larson E., Heston L.L., Martin G.M., Bird T.D., Scellemberg G.D. Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region. Am. J. Hum. Genet. 51:1992;998-1014.
40. Bugiani O., Padovani A., Magoni M., Andora G., Sgarzi M., Savoiardo M., Bizzi A., Giaccone G., Rossi G., Tagliavini F. A new AβPP mutation produces hereditary cerebral hemorrhage in an Italian kindred. Neurobiol. Aging. 19:1998;S238.
41. Tagliavini F., Rossi G., Padovani A., Magoni M., Andora G., Sgarzi M., Bizzi A., Savoiardo M., Carella F., Morbin M., Giaccone G., Bugiani O. A new AβPP mutation related to hereditary cerebral hemorrhage. Alzheimer's Rep. 2:1999;23.
42. Hendriks L., van Duijn C.M., Cras P., Cruts M., Van Hul W., van Harskamp F., Warren A., McInnis M.G., Antonaeakis S.E., Martin J.J., et al. Presenile dementia and cerebral hemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene. Nat. Genet. 1:1992;218-221.
43. Grabowski T.J., Cho H.S., Vonsattel J.P., Rebeck G.W., Greenberg S.M. Novel amyloid precursor protein mutation in an Iowa family with dementia and severe cerebral amyloid angiopathy. Ann. Neurol. 49:2001;691-693.
44. Mullan M., Crawford F., Axelman K., Houlden H., Lilius L., Winblad M., Lannfelt L. A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid. Nat. Genet. 1:1992;345-347.
45. Eckman C.B., Mehta N.D., Crook R., Perez-Tur J., Prihar G., Pfeiffer E., Graff-Radford N., Hinder P., Yager D., Zenk B., Refolo L.M., Prada C.M., Younkin S.G., Hutton M., Hardy J. A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of Aβ42(43). Hum. Mol. Genet. 6:1997;2087-2089.
46. Goate A., Chartier-Harlin M.C., Mullan M., Brown J., Crawford F., Fidani L., Giuffra L., Haynes A., Irving N., James L., Mant R., Newton P., Rooke K., Roques P., Talbot C., Pericak-Vance M., Roses A., Williamson R., Rossor M., Owen M., Hardy J. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature. 349:1991;704-706.
47. Murrell J., Farlow M., Ghetti B., Benson M.D. A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease. Science. 254:1991;97-99.
48. Chartier-Harlin M.C., Crawford F., Houlden H., Warre A., Hughes D., Fidani L., Goate A., Rossor M., Roques P., Hardy J., Mullan M. Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene. Nature. 353:1991;844-846.
49. Checler F. Presenilins: Multifunctional proteins involved in Alzheimer's disease pathology. IUBMB Life. 48:1999;33-39.
50. Corder E.H., Saunders A.M., Strittmatter W.J., Schmechel D.E., Gaskell P.C., Small G.W., Roses A.D., Haines J.L., Pericak-Vance M.A. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science. 261:1993;921-923.
51. Saunders A.M., Schmader K., Breitner J.C., Benson M.D., Brown W.T., Goldfarb L., Goldgaber D., Manwaring M.G., Szymanski M.H., McCown N., Roses A.D. Apolipoprotein E epsilon 4 allele distributions in late-onset Alzheimer's disease and in other amyloid-forming diseases. Lancet. 342:1993;710-711.
52. Mayeux R., Stern Y., Ottman R., Tatemichi T.K., Tang M.X., Maestre G., Ngai C., Tycko B., Ginsberg H. The apolipoprotein epsilon 4 allele in patients with Alzheimer's disease. Ann. Neurol. 34:1993;752-754.
53. Ueki A., Kawano M., Namba Y., Kawakami M., Ikeda K. A high frequency of apolipoprotein E4 isoprotein in Japanese patients with late-onset nonfamilial Alzheimer's disease. Neurosci. Lett. 163:1993;166-168.
54. Mahley R.W. Apolipoprotein E: cholesterol transport protein with expanding role in cell biology. Science. 240:1988;622-630.
55. Mahley R.W., Huang Y. Apolipoprotein E: from atherosclerosis to Alzheimer's disease and beyond. Curr. Opin. Lipidol. 10:1999;207-217.
56. Rebeck G.W., Reiter J.S., Strickland D.K., Hyman B.T. Apolipoprotein E in sporadic Alzheimer's disease: allelic variation and receptor interactions. Neuron. 11:1993;575-580.
57. Strittmatter W.J., Saunders A.M., Schmechel D., Pericak-Vance M., Enghild J., Salvesen G.S., Roses A.D. Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. Proc. Natl. Acad. Sci. USA. 90:1993;1977-1981.
58. Wisniewski T., Golabek A.A., Matsubara E., Ghiso J., Frangione B. Apolipoprotein E: binding to soluble Alzheimer's beta-amyloid. Biochem. Biophys. Res. Commun. 192:1993;359-365.
59. Tokuda T., Calero M., Matsubara E., Vidal R., Kumar A., Permanne B., Zlokovic B., Smith J.D., Ladu M.J., Rostagno A., Frangione B., Ghiso J. Lipidation of apolipoprotein E influences its isoform-specific interaction with Alzheimer's amyloid beta peptides. Biochem. J. 348:2000;359-365.
60. Strittmatter W.J., Weisgraber K.H., Goedert M., Saunders A.M., Huang D., Corder E.H., Dong L.M., Jakes R., Alberts M.J., Gilbert J.R., Han S.H., Hulette C.M., Einstein G., Schmechel D.E., Pericak-Vance M.A., Roses A.D. Hypothesis: microtubule instability and paired helical filament formation in the Alzheimer disease brain are related to apolipoprotein E genotype. Exp. Neurol. 125:1994;163-171.
61. Wisniewski T., Castaño E.M., Golabek A.A., Vogel T., Frangione B. Acceleration of Alzheimer's fibril formation by apolipoprotein E in vitro. Am. J. Pathol. 145:1994;1030-1035.
62. Ma J., Yee A., Brewer H.B., Das S., Potter H. Amyloid-associated proteins alpha 1-antichymotrypsin and apolipoprotein E promote assembly of Alzheimer beta-protein into filaments. Nature. 372:1994;92-94.
63. LaDu M.J., Falduto M.T., Manelli A.M., Reardon C.A., Getz G.S., Frail D.E. Isoform-specific binding of apolipoprotein E to beta-amyloid. J. Biol. Chem. 269:1994;23403-23406.
64. Wisniewski T., Lalowski M., Golabek A.A., Vogel T., Frangione B. Is Alzheimer's disease an apolipoprotein E amyloidosis. Lancet. 345:1995;956-958.
65. Bales K.R., Verina T., Dodel R.C., Du Y.S., Altstiel L., Johnstone E.M., Little S.P., Cummins D.J., Piccardo P., Ghetti B., Paul S.M. Lack of apolipoprotein E dramatically reduces amyloid β-peptide deposition. Nat. Genet. 17:1997;263-264.
66. Holtzman D.M., Fagan A.M., Mackey B., Tenkova T., Sartorius L., Paul S.M., Bales K., Ashe K.H., Irizarry M.C., Hyman B.T. Apolipoprotein E facilitates neuritic and cerebrovascular plaque formation in an Alzheimer's disease model. Ann. Neurol. 47:2000;739-747.
67. Grundke-Iqbal I., Iqkal K., Tung Y.C., Quinlan M., Wisniewski H.M., Binder L.I. Abnormal phosphorylation of the microtubule-associated protein tau in Alzheimer's cytoskeletal pathology. Proc. Natl. Acad. Sci. USA. 83:1986;4913-5017.
68. Wood J.G., Mirra S.S., Pollock N.L., Binder L.I. Neurofibrillary tangles in Alzheimer's disease share antigenic determinants with the axonal microtubule-associated protein tau. Proc. Natl. Acad. Sci. USA. 83:1986;4040-4043.
69. Kosik K.S., Joachim C.L., Selkoe D.J. Microtubule-associated protein, tau, is a major antigenic component of paired helical filaments in Alzheimer's disease. Proc. Natl. Acad. Sci. USA. 83:1986;4044-4048.
70. Ghiso J., Revesz T., Holton J., Rostagno A., Lashley T., Houlden H., Gibb G., Anderton B., Bek T., Bojsen-Møller M., Wood N., Vidal R., Braendgaard H., Plant G., Frangione B. Chromosome 13 dementia syndromes as models of neurodegeneration. Amyloid J. Prot. Fold. Dis. 8:2001;277-284.
71. Holton J., Ghiso J., Lashley T., Rostagno A., Guerin C., Gibb G., Houlden H., Ayling H., Martinian L., Anderton B., Wood N., Vidal R., Plant G., Frangione B., Révész T. Regional distribution of fibrillar and non-fibrillar ABri deposition and its association with neurofibrillary degeneration in Familial British Dementia. Am. J. Pathol. 158:2001;515-526.
72. Holton J., Lashley T., Ghiso J., Braendgaard H., Guerin C., Gibb G., Vidal R., Rostagno A., Anderton B., Strand C., Ayling H., Plant G., Frangione B., Bojsen-Møller M., Revesz T. Familial Danish dementia: A novel form of cerebral amyloidosis associated with deposition of both amyloid-Dan and amyloid-beta. J. Neuropath. Exper. Neurol. 61:2002;254-267.
73. Kim S-H., Wang R., Gordon D.J., Bass J., Steiner D., Lynn D.G., Thinakaran G., Meredith S., Sisodia S.S. Furin mediates enhanced production of fibrillogenic ABri peptides in familial British dementia. Nat. Neurosci. 2:1999;984-988.
74. Ghiso J., Miravalle L., Calero M., Holton J., Lashley T., Vidal R., Houlden H., Wood N., Rostagno A., Plant G., Révész T., Frangione B. Systemic amyloid deposits in familial British dementia. J. Biol. Chem. 276:2001;43909-43914.
75. Joachim C., Mori H., Selkoe D. Amyloid beta-protein deposition in tissues other than brain in Alzheimer's disease. Nature. 341:1989;226-230.
76. Skodras G., Peng J., Parker J., Kragel P. Immunohistochemical localization of amyloid beta-protein deposits in extracerebral tissues of patients with Alzheimer's disease. Ann. Clin. Lab. Sci. 23:1993;275-280.
77. Wen G., Wisnieski H.M., Blondal H., Benedilsz E., Frey H., Pirttila T., Rudelli R., Kim K.S. Presence of non-fibrillar amyloid beta protein in skin biopsies of Alzheimer's disease (AD), Down's syndrome and non-AD normal persons. Acta Neuropathol. 88:1994;201-206.
78. Gudmundsson G., Hallgrimsson J., Jonasson T., Bjarnason O. Hereditary cerebral hemorrhage with amyloidosis. Brain. 95:1972;387-404.
79. Benedikz E., Blondal H., Gudmunsson G. Skin deposits in hereditary cystatin C amyloidosis. Virchows Arch. A. 417:1990;325-331.
80. Ghiso J., Jensson O., Frangione B. Amyloid fibrils in hereditary cerebral hemorrhage with amyloidosis of Icelandic type is a variant of γ-trace basic protein (cystatin-C). Proc. Natl. Acad. Sci. USA. 83:1986;2974-2978.
81. Levy E., Lopez-Otin C., Ghiso J., Geltner D., Frangione B. Stroke in Icelandic patients with hereditary amyloid angiopathy is related to a mutation in the cystatin-C gene, an inhibitor of cysteine proteases. J. Exp. Med. 169:1989;1771-1778.
82. Crawford F.C., Freeman M.J., Schinka J.A., Abdullah L.I., Gold M., Hartman R., Krivian K., Morris M.D., Richards D., Duara R., Anand R., Mullan M.J. A polymorphism in the cystatin C gene is a novel risk factor for late-onset Alzheimer's disease. Neurology. 55:2000;763-768.
83. Finckh U., von Der Kammer H., Velden J., Michel T., Andresen B., Deng A., Zhang J., Muller-Thomsen T., Zuchowski K., Menzer G., Mann U., Papassotiropoulos A., Heun R., Zurdel J., Holst F., Benussi L., Stoppe G., Reiss J., Miserez A.R., Staehelin H.B., Rebeck G.W., Hyman B.T., Binetti G., Hock C., Growdon J.H., Nisch R.M. Genetic association of a cystatin C gene polymorphism with late onset Alzheimer's disease. Arch. Neurol. 57:2000;1579-1583.