A brief history of Alzheimer's disease gene discovery

Journal of Alzheimer's Disease

Volumn 33, Issue SUPPL. 1, 2013, Pages

  Tanzi, Rudolph E ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

Amyloid ; amyloid protein precursor; APOE; CD33; chromosome 21; down syndrome; genome wide association study; presenilin

Indexed keywords

ADAM10 ENDOPEPTIDASE; AMYLOID BETA PROTEIN; AMYLOID PRECURSOR PROTEIN; APOLIPOPROTEIN E; ATAXIN 1; BRIDGING INTEGRATOR 1 PROTEIN; CLUSTERIN; COMPLEMENT COMPONENT RECEPTOR 1; COMPLEMENTARY DNA; COPPER ZINC SUPEROXIDE DISMUTASE; MESSENGER RNA; PHOSPHATIDYLINOSITOL BINDING CLATHRIN ASSEMBLY PROTEIN; PRESENILIN 1; PRESENILIN 2; UNCLASSIFIED DRUG;

ALZHEIMER DISEASE; AMINO ACID SEQUENCE; CHROMOSOME 21; DNA POLYMORPHISM; GENE MUTATION; GENETIC ASSOCIATION; HERITABILITY; HUMAN; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84872574316     PISSN: 13872877     EISSN: 18758908     Source Type: Journal    
DOI: 10.3233/JAD-2012-129044     Document Type: Review

References (47)

1. Gusella JF,Wexler NS, Conneally PM, Naylor SL, Anderson MA,Tanzi RE,Watkins PC, Ottina K,WallaceMR,Sakaguchi AY, Young AB, Shoulson I, Bonilla E, Martin JB (1983) A polymorphic DNA marker genetically linked to Huntington's disease. Nature 306, 234-238
2. Tanzi RE, Parson AB (2000) Decoding darkness: The search for the genetic causes of Alzheimer's disease. Basic Books, New York, p. 304
3. Glenner GG and Wong CW (1984) Alzheimer's disease and Down's syndrome: Sharing of a unique cerebrovascular amyloid fibril protein. Biochem Biophys Res Commun 122, 1131-1135
4. Masters CL, Simms G, Weinman NA, Multhaup G, McDonald BL, Beyreuther K (1985) Amyloid plaque core protein in Alzheimer disease and Down syndrome. Proc Natl Acad Sci U S A 82, 4245-4249
5. Hardy JA, Higgins GA (1992) Alzheimer's disease: The amyloid cascade hypothesis. Science 256, 184-185
6. Hardy. J, Selkoe DJ (2002) The amyloid hypothesis of Alzheimer's disease: Progress and problems on the road to therapeutics. Science 297, 353-356
7. Tanzi RE, Bertram L (2005) Twenty years of the Alzheimer's disease amyloid hypothesis: A genetic perspective. Cell 4, 545-555
8. Watkins PC, Tanzi RE, Gibbons KR, Tricoli JV, Landes G, Eddy R, Shows TB, Gusella JF (1985) Isolation of polymorphic DNA segments from human chromosome 21. Nucleic Acids Res 13, 6075-6089
9. Tanzi RE, Haines JL, Watkins PC, Stewart GD, Hallewell R, Wong C, Wexler NS, Conneally PM, Gusella JF (1988) Genetic linkage map of human chromosome 21. Genomics 3, 129-136
10. Tanzi RE, Watkins PC, Stewart GD, Wexler NS, Gusella JF, Haines JL (1992) A genetic linkage map of human chromosome 21q: Patterns of recombination according to age and sex. Am J Hum Genet 50, 551-558
11. Goldgaber D, Lerman MI, McBrideOW, Saffiotti U, Gajdusek DC (1987) Characterization and chromosomal localization of a cDNA encoding brain amyloid of Alzheimer's disease. Science 235, 877-880
12. Tanzi RE, Gusella JF, Watkins PC, Bruns GA, St George-Hyslop P, Van Keuren ML, Patterson D, Pagan S, Kurnit DM, Neve RL (1987) Amyloid beta protein gene: CDNA, mRNA distribution, and genetic linkage near the Alzheimer locus. Science 235, 880-884
13. St. George-Hyslop PH,Tanzi RE, Polinsky RJ, Haines JL, Nee L, Watkins PC, Myers R, Feldman R, Pollen D, Drachman D, Growdon J, Bruni A, Foncin J-F, Frommelt P, Amaducci L, Sorbi S, Piacentini S, Stewart GD, Hobbs WJ, Conneally PM, Gusella JF (1987) The genetic defect causing familial Alzheimer's disease maps on chromosome 21. Science 235, 885-890
14. Kang J, Lemaire HG, Unterbeck A, Salbaum JM, Masters CL, Grzeschik KH, Multhaup G, Beyreuther K, Muller-Hill B (1987) The precursor of Alzheimer's disease amyloid A4 protein resembles a cell-Surface receptor. Nature 325, 733-736
15. Tanzi RE, McClatchey AI, Lamperti ED, V-Komaroff L, Gusella JF, Neve R (1988) Protease inhibitor domain encoded by an amyloid protein precursor mRNA associated with Alzheimer's disease. Nature 331, 528-530
16. Tanzi RE, St. George-Hyslop PH, Haines JL, Polinsky RJ, Nee L, Foncin J-F, Neve RL, McClatchey AI, Conneally PM, Gusella JF (1987) The genetic defect in familial Alzheimer's disease is not tightly linked to the amyloid beta protein gene. Nature 329, 156-157
17. Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, Chi H, Lin C, Li G, Holman K, Tsuda T, Mar L, Foncin JF, Bruni AC, Montesi MP, Sorbi S, Rainero I, Pinessi L, Nee L, Chumakov I, Pollen D, Brookes A, Sanseau P, Polinsky RJ,WascoW, Da Silva HA, Haines JL, Perkicak-Vance MA, Tanzi RE, Roses AD, Fraser PE, Rommens JM, St George-HyslopPH(1995) Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 375, 754-760
18. Van Broeckhoven C, Genthe AM, Vandenberghe A, Horsthemke B, Backhovens H, Raeymaekers P, Van Hul W, Wehnert A, Gheuens J, Cras P, Bruyland M, Martin J, Salbaum M, Multhaup G, Masters C, Beyreuther K, Gurling HMD, Mullan MJ, Haolland A, Barton A, Irving N, Williamson R, Richards SJ, Hardy JA (1987) Failure of familial Alzheimer's disease to segregate with the A4-Amyloid gene in several European families. Nature 329, 153-155
19. Levy E, Carman MD, Fernandez-Madrid IJ, Power MD, Lieberburg I, van Duinen SG, Bots GT, Luyendijk W, Frangione B (1990) Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type. Science 248, 1124-1126
20. Goate A, Chartier-Harlin MC, Mullan M, Brown J, Crawford F, Fidani L, Giuffra L, Haynes A, Irving N, James L (1991) Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 349, 704-706
21. Tanzi RE, Vaula G, Romano DM, Mortilla M, Huang TL, Tupler RG, Wasco W, Hyman BT, Haines JL, Jenkins BJ, Kalaitsidaki M, Warren AC, McInnis MG, Antonarakis SE, Karlinsky H, Percy ME, Connor L, Growdon J, Crapper-Mclachlan DR, Gusella JF, St. George-Hyslop PH (1992) Assessment of -Amyloid protein precursor gene mutations in a large set of familial and sporadic Alzheimer disease cases. Am J Hum Genet 51, 273-282
22. Levy-Lahad E,WascoW, Poorkaj P, Romano DM, Oshima J, Pettingell WH, Yu CE, Jondro PD, Schmidt SD, Wang K, Crowley AC, Fu Y-H, Guenette SY, Galas D, Nemens E, Wijsman EM, Bird TD, Schellenberg GD, Tanzi RE (1995) Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 269, 973-977
23. Rogaev EI, Sherrington R, Rogaeva EA, Levesque G, Ikeda M, LiangY, Chi H, Lin C, Holman K, Tsuda T (1995) 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
24. Hooli BV, Mohapatra G, Mattheisen M, Parrado AR, Roehr JT, Shen Y, Gusella JF, Moir R, Saunders AJ, Lange C, Tanzi RE, Bertram L (2012) Role of common and rare APP DNA sequence variants in Alzheimer disease. Neurology 78, 1250-1257
25. Scheuner D, Eckman C, Jensen M, Song X, Citron M, Suzuki N, Bird TD, Hardy J, Hutton M, Kukull W et al. (1996) Secreted amyloid beta-Protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease. Nat Med 2, 864-870
26. Kounnas MZ, Danks AM, Cheng S, Tyree C, Ackerman E, Zhang X, Ahn K, Nguyen P, Comer P, Mao L, Yu C, Pleynet D, Digregorio PJ, Velicelebi G, Stauderman KA, Comer WT, Mobley WC, Li Y-M, Sisodia SS, Tanzi RE, Wagner SL (2010) Modulation of -Secretase reduces -Amyloid deposition in a transgenic mouse model of Alzheimer's disease. Neuron 67, 769-780
27. Siddique T, Figlewicz M, Perikak-Vance M, Haines J, Roos RP, Rouleau G, Williams D, Watkins PC, Jeffers A, Sapp P, Hung W, Bebout J, Noore FR, Nicholson G, Reed R, McKenna-Yasek D, Deng G, Beard C, Brooks BR, Festoff B, Antel J, Tandan R, Munsat TL, Mulder DW, Laing NG, Halperin J, Norris FH, Van den Bergh R, Swerts L, Tanzi R, Jubelt B, Matthews KM, Bosch EP, Horvitz R, Gusella JF, Brown RH, Roses AD (1991) Assignment of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence for genetic heterogeneity. N Eng J Med 324, 1381-1384
28. Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hontati A, Donaldson D, Goto J, O'Regan JP, Deng H-X, Rahman Z, Krizus A, McKenna-Yasek D, Tanzi RE, Halperin JJ, Herzfeldt B, Van den Berg R, HungW-Y, Bird T, Deng G, Mulder DW, Smyth C, Laing NG, Soriano E, Pericak-Vance M, Haines J, Rouleau GA, Horvitz HR, Brown RH (1993) Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362, 59-62
29. Tanzi RE, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B, Romano DM, Brzustowicz LM, Devoto M, Peppercorn J, Bush AI, Sternlieb I, Pirastu M, Gusella JF, Evgrafov O, Penchaszadeh GK, Honig B, Edelman IS, Soares MB, Scheinberg IH, Gilliam TC (1993) Identification of the Wilson's disease gene: A copper transporting ATPase with homology to the Menke's disease gene. Nat Genet 5, 344-350
30. Bush AI, Pettingell W, Multhaup G, Paradis MD, Vonsattel J-P, Gusella JF, Beyreuther K, Masters CL, Tanzi RE (1994) Rapid induction of Alzheimer A amyloid formation by zinc. Science 265, 1464-1467
31. Bush AI, Tanzi RE (2008) Therapeutics for Alzheimer's disease based on the metal hypothesis. Neurotherapeutics 5, 421-432
32. Strittmatter WJ, Saunders AM, Schmechel D, Pericak-Vance M, Enghild J, Salvesen GS, Roses AD (1993) 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 U S A 90, 1977-1981
33. Corder EH, Saunders AM, Risch NJ, Strittmatter WJ, Schmechel DE, Gaskell PC Jr, Rimmler JB, Locke PA, Conneally PM, Schmader KE et al. (1994) Protective effect of apolipoproteinEtype 2 allele for late onset Alzheimer disease. Nat Genet 7, 180-184
34. Bertram L, McQueen MB, Mullin K, Blacker D, Tanzi RE (2007) Systematic meta-Analyses of Alzheimer disease genetic association studies: The AlzGene database. Nat Genet 39, 17-23
35. Bertram L, Tanzi RE (2008) Thirty years of Alzheimer's disease genetics: Systematic meta-Analyses herald a newera. Nat Rev Neurosci 9, 768-778
36. Bertram L, Lange C, Mullin K, Parkinson M, Hsiao M, Hogan MF, Schjeide BMM, Hooli B, Divito J, Ionita I, Jiang H, Laird N, Moscarillo T, Ohlsen KL, Elliott K,Wang X, Hu-Lince D, Ryder M, Murphy A, Wagner SL, Blacker D, Becker KD, Tanzi RE (2008) Genome-wide association analysis reveals putative Alzheimer's disease susceptibility loci in addition to APOE. Am J Hum Genet 5, 623-632
37. Zhang C, Browne A, Child D, Divito JR, Stevenson JA, Tanzi RE (2010) Loss of function of ATXN1 increases amyloid beta-Protein levels by potentiating beta-Secretase processing of beta-Amyloid precursor protein. J Biol Chem 285, 8515-8526
38. Crocker PR, Paulson JC, Varki A (2007) Siglecs and their roles in the immune system. Nat Rev Immunol 7, 255-266
39. Soscia SJ, Kirby JE, Washicosky KJ, Tucker SM, Ingelsson M, Hyman B, Burton MA, Goldstein LE, Duong S, Tanzi RE, Moir RD (2010) The Alzheimer's disease-Associated amyloid beta-Protein is an antimicrobial peptide. PLoS ONE 5, e9505
40. Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K,Williams A, Jones N, Thomas C, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Sch?urmann B, van den Bussche H, Heuser I, Kornhuber J,Wiltfang J, Dichgans M, Frölich L, Hampel H, H?ull M, Rujescu D, Goate AM, Kauwe JSK, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van BroeckhovenC,Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, M?uhleisen TW, Nöthen MM, Moebus S, Jöckel K, Klopp N, Wichmann H, Carrasquillo MM, Pankratz VS, Younkin SG, Holmans PA, O'Donovan M, Owen MJ, Williams J (2009) Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet 41, 1088-1093
41. Lambert J, Heath S, Even G, Campion D, Sleegers K, Hiltunen M, Combarros O, Zelenika D, Bullido MJ, Tavernier B, Letenneur L, Bettens K, Berr C, Pasquier F, Fi'evet N, Barberger-Gateau P, Engelborghs S, De Deyn P, Mateo I, Franck A, Helisalmi S, Porcellini E, Hanon O, de Pancorbo MM,Lendon C, Dufouil C, Jaillard C, LeveillardT, AlvarezV, Bosco P, Mancuso M, Panza F, Nacmias B, Boss̀u P, Piccardi P, Annoni G, Seripa D, Galimberti D, Hannequin D, Licastro F, Soininen H, Ritchie K, Blanch'e H, Dartigues J, Tzourio C, Gut I, Van Broeckhoven C, Alp'erovitch A, Lathrop M, Amouyel P (2009) Genome-wide association study identifies variants atCLUandCR1associated with Alzheimer's disease. Nat Genet 41, 1094-1099
42. Seshadri S, Fitzpatrick AL, Ikram MA, DeStefano AL, Gudnason V, Boada M, Bis JC, Smith AV, Carassquillo MM, Lambert JC, Harold D, Schrijvers EMC, Ramirez-Lorca R, Debette S, LongstrethWT, JanssensACJW, Pankratz VS, Dartigues JF, Hollingworth P, Aspelund T, Hernandez I, Beiser A, Kuller LH, Koudstaal PJ, Dickson DW, Tzourio C, Abraham R, Antunez C, Du Y, Rotter JI, Aulchenko YS, Harris TB, Petersen RC, Berr C, Owen MJ, Lopez-Arrieta J, Varadarajan BN, Becker JT, Rivadeneira F, Nalls MA, Graff-Radford NR, Campion D, Auerbach S, Rice K, Hofman A, Jonsson PV, Schmidt H, Lathrop M, Mosley TH, Au R, Psaty BM, Uitterlinden AG, Farrer LA, Lumley T, Ruiz A, Williams J, Amouyel P, Younkin SG,Wolf PA, Launer LJ, Lopez OL, van Duijn CM, Breteler MMB (2010) Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA 303, 1832-1840
43. Naj AC, Jun G, Beecham GW, Wang LS, Vardarajan BN, Buros J, Gallins PJ, Buxbaum JD, Jarvik GP, Crane PK, Larson EB, Bird TD, Boeve BF, Graff-Radford NR, De Jager PL, Evans D, Schneider JA, Carrasquillo MM, Ertekin-Taner N, Younkin SG, Cruchaga C, Kauwe JS, Nowotny P, Kramer P, Hardy J, Huentelman MJ, Myers AJ, Barmada MM, Demirci FY, Baldwin CT, Green RC, Rogaeva E, St George-Hyslop P, Arnold SE, Barber R, Beach T, Bigio EH, Bowen JD, Boxer A, Burke JR, Cairns NJ, Carlson CS, Carney RM, Carroll SL, Chui HC, Clark DG, Corneveaux J, Cotman CW, Cummings JL, DeCarli C, DeKosky ST, Diaz-Arrastia R, Dick M, Dickson DW, Ellis WG, Faber KM, Fallon KB, Farlow MR, Ferris S, Frosch MP, Galasko DR, Ganguli M, Gearing M, Geschwind DH, Ghetti B, Gilbert JR, Gilman S, Giordani B, Glass JD, Growdon JH, Hamilton RL, Harrell LE, Head E, Honig LS, Hulette CM, Hyman BT, Jicha GA, Jin LW, Johnson N, Karlawish J, Karydas A, Kaye JA, Kim R, Koo EH, Kowall NW, Lah JJ, Levey AI, Lieberman AP, Lopez OL, Mack WJ, Marson DC, Martiniuk F, Mash DC, Masliah E, McCormick WC, McCurry SM, McDavid AN, McKee AC, Mesulam M, Miller BL, Miller CA, Miller JW, Parisi JE, Perl DP, Peskind E, Petersen RC, Poon WW, Quinn JF, Rajbhandary RA, Raskind M, Reisberg B, Ringman JM, Roberson ED, Rosenberg RN, Sano M, Schneider LS, Seeley W, Shelanski ML, Slifer MA, Smith CD, Sonnen JA, Spina S, Stern RA, Tanzi RE, Trojanowski JQ, Troncoso JC, Van Deerlin VM, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA,Williamson J,Woltjer RL, Cantwell LB, Dombroski BA, Beekly D, Lunetta KL, Martin ER, Kamboh MI, Saykin AJ, Reiman EM, Bennett DA, Morris JC, Montine TJ, Goate AM, Blacker D, Tsuang DW, Hakonarson H, Kukull WA, Foroud TM, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA, Schellenberg GD (2011) Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet 43, 436-441
44. Hollingworth P, Harold D, Sims R, Gerrish A, Lambert JC, Carrasquillo MM, Abraham R, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Jones N, Stretton A, Thomas C, Richards A, Ivanov D,Widdowson C, Chapman J, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Beaumont H,Warden D,Wilcock G, Love S, Kehoe PG, Hooper NM, Vardy ER, Hardy J, Mead S, Fox NC, Rossor M, R,Kölsch H, van den Bussche H, Heuser I,Kornhuber J,Wiltfang J, Dichgans M, Frölich L, Hampel H, Gallacher J, Hull M, Rujescu D, Giegling I, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van Broeckhoven C, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, M?uhleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Pankratz VS, Sando SB, Aasly JO, Barcikowska M, Wszolek ZK, Dickson DW, Graff-Radford NR, Petersen RC, Alzheimer's Disease Neuroimaging Initiative, van Duijn CM, Breteler MM, Ikram MA, DeStefano AL, Fitzpatrick AL, Lopez O, Launer LJ, Seshadri S, consortium CHARGE, Berr C, Campion D, Epelbaum J, Dartigues JF, Tzourio C, Alp'erovitch A, Lathrop M, EADI1 consortium, Feulner TM, Friedrich P, Riehle C, Krawczak M, Schreiber S, Mayhaus M, Nicolhaus S, Wagenpfeil S, Steinberg S, Stefansson H, Stefansson K, Snaedal J, Björnsson S, Jonsson PV, Chouraki V, Genier-Boley B, Hiltunen M, Soininen H, Combarros O, Zelenika D, Delepine M, Bullido MJ, Pasquier F, Mateo I, Frank-Garcia A, Porcellini E, Hanon O, Coto E, Alvarez V, Bosco P, Siciliano G, Mancuso M, Panza F, Solfrizzi V, Nacmias B, Sorbi S, Boss̀u P, Piccardi P, Arosio B, Annoni G, Seripa D, Pilotto A, Scarpini E, Galimberti D, Brice A, Hannequin D, Licastro F, Jones L, Holmans PA, Jonsson T, Riemenschneider M, Morgan K, Younkin SG, Owen MJ, O'Donovan M, Amouyel P, Williams J (2011) Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet 43, 429-435
45. Kim M, Suh J, Romano D, Truong MH, Mullin K, Hooli B, Norton D, Tesco G, Elliott K, Wagner SL, Moir RD, Becker KD, Tanzi RE (2009) Potential late-onset Alzheimer's disease-Associated mutations in the ADAM10 gene attenuate a-Secretase activity. Hum Mol Genet 18, 3987-3996
46. Bertram L, Lill CM, Tanzi RE (2010) The genetics of Alzheimer disease: Back to the future. Neuron 68, 270-281
47. Bertram L,TanziRE(2009) Genome-wide association studies in Alzheimer's disease. Hum Mol Genet 18, R137-R145