Association study between Alzheimer's disease and genes involved in Aβ biosynthesis, aggregation and degradation: Suggestive results with BACE1

Journal of Neurology

Volumn 250, Issue 8, 2003, Pages 956-961

  Clarimón, Jordi ^a   Bertranpetit, Jaume ^a   Calafell, Francesc ^a   Boada, Mercè ^b   Tàrraga, Lluís ^b   Comas, David ^a  

^a UNIVERSITAT POMPEU FABRA   (Spain)

^b Neurociències Aplicades ^*  (Spain)

Author keywords

ACHE; Alzheimer's disease; BACE; Plasmin; Polymorphisms

Indexed keywords

ACETYLCHOLINESTERASE; AMYLOID BETA PROTEIN; APOLIPOPROTEIN E; BETA SECRETASE; PLASMIN; PLASMINOGEN ACTIVATOR INHIBITOR 1; TISSUE PLASMINOGEN ACTIVATOR;

AGE; AGED; ALZHEIMER DISEASE; ARTICLE; CASE CONTROL STUDY; CONTROLLED STUDY; CORRELATION ANALYSIS; EXON; FEMALE; GENDER; GENE FREQUENCY; GENETIC ASSOCIATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN DEGRADATION; PROTEIN SYNTHESIS; PUBLICATION; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL ANALYSIS;

3' UNTRANSLATED REGIONS; ACETYLCHOLINESTERASE; AGED; ALLELES; ALU ELEMENTS; ALZHEIMER DISEASE; AMYLOID BETA-PROTEIN; AMYLOID BETA-PROTEIN PRECURSOR; AMYLOID PRECURSOR PROTEIN SECRETASES; APOLIPOPROTEIN E4; APOLIPOPROTEINS E; ASPARTIC ENDOPEPTIDASES; CASE-CONTROL STUDIES; CHI-SQUARE DISTRIBUTION; DENTAL CARE FOR AGED; ENDOPEPTIDASES; EXONS; FEMALE; GENOTYPE; HUMANS; INTRONS; MALE; MUTAGENESIS, INSERTIONAL; ODDS RATIO; POLYMORPHISM, SINGLE NUCLEOTIDE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TISSUE PLASMINOGEN ACTIVATOR; VARIATION (GENETICS);

EID: 0042381875     PISSN: 03405354     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00415-003-1127-8     Document Type: Article

References (26)

1. Aoyagi T, Wada T, Kojima F, Nagai M, Harada S, Takeuchi T, Isse K, Ogura M, Hamamoto M, Tanaka K (1992) Deficiency of fibrinolytic enzyme activities in the serum of patients with Alzheimer-type dementia. Experientia 48:656-659
2. Bartels CF, Zelinski T, Lockridge O (1993) Mutation at codon 322 in the human acetylcholinesterase (ACHE) gene accounts for YT blood group polymorphism. Am J Hum Genet 52:928-936
3. Clarimón J, Bertranpetit J, Calafell F, Boada M, Tàrraga LI, Comas D (in press) Joint analysis of candidate genes related to Alzheimer's disease in a Spanish population. Psichiatr Genet
4. Cruts M, Dermaut B, Rademakers R, Roks G, Van den Broeck M, Munteanu G, van Duijn CM, Van Broeckhoven C (2001) Amyloid beta secretase gene (BACE) is neither mutated in nor associated with early-onset Alzheimer's disease. Neurosci Lett 313:105-107
5. Dawson SJ, Wiman B, Hamsten A, Green F, Humphries S, Henney AM (1993) The two allele sequences of a common polymorphism in the promoter of the plasminogen activator inhibitor-1 (PAI-1) gene respond differently to interleukin-1 in HepG2 cells. J Biol Chem 268:10739-10745
6. De Ferrari GV, Canales MA, Shin I, Weiner LM, Silman I, Inestrosa NC (2001) A structural motif of acetylcholinesterase that promotes amyloid beta-peptide fibril formation. Biochemistry 40:10447-10457
7. Exley C, Korchazhkina OV (2001) Plasmin cleaves Abeta42 in vitro and prevents its aggregation into beta-pleated sheet structures. Neuroreport 12:2967-2970
8. Hardy J (1997) Amyloid, the presenilins and Alzheimer's disease. Trends Neurosci 20:154-159
9. Hixson JE, Vernier DT (1990) Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J Lipid Res 31:545-548
10. Hussain I, Powell D, Howlett DR, Tew DG, Meek TD, Chapman C, Gloger IS, Murphy KE, Southan CD, Ryan DM, Smith TS, Simmons DL, Walsh FS, Dingwall C, Christie G (1999) Identification of a novel aspartic protease (Asp 2) as beta-secretase. Mol Cell Neurosci 14:419-427
11. Inestrosa NC, Alvarez A, Perez CA, Moreno RD, Vicente M, Linker C, Casanueva OI, Soto C, Garrido J (1996) Acetylcholinesterase accelerates assembly of amyloid-beta-peptides into Alzheimer's fibrils: possible role of the peripheral site of the enzyme. Neuron 16:881-891
12. Ledesma MD, Da Silva JS, Crassaerts K, Delacourte A, De Strooper B, Dotti CG (2000) Brain plasmin enhances APP alpha-cleavage and Abeta degradation and is reduced in Alzheimer's disease brains. EMBO Rep 1:530-535
13. Lin X, Koelsch G, Wu S, Downs D, Dashti A, Tang J (2000) Human aspartic protease memapsin 2 cleaves the beta-secretase site of beta-amyloid precursor protein. Proc Natl Acad Sci USA 97:1456-1460
14. McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM (1984) Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology 34:939-944
15. Murphy T, Yip A, Brayne C, Easton D, Evans JG, Xuereb J, Cairns N, Esiri MM, Rubinsztein DC (2001) The BACE gene: genomic structure and candidate gene study in late-onset Alzheimer's disease. Neuroreport 12:631-634
16. Nicolaou M, Song YQ, Sato CA, Orlacchio A, Kawarai T, Medeiros H, Liang Y, Sorbi S, Richard E, Rogaev EI, Moliaka Y, Bruni AC, Jorge R, Percy M, Duara R, Farrer LA, St Georg-Hyslop P, Rogaeva EA (2001) Mutations in the open reading frame of the beta-site APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer's disease. Neurogenetics 3:203-206
17. Nowotny P, Kwon JM, Chakraverty S, Nowotny V, Morris JC, Goate AM (2001) Association studies using novel polymorphisms in BACE1 and BACE2. Neuroreport 12:1799-1802
18. Schneider S, Kueffer JM, Roessli D, Excoffier L (2000) Arlequin ver. 2000: A software environment for the analysis of population genetics data. Geneva, Genetics Biometry Laboratory, University of Geneva, Switzerland
19. Selkoe DJ (1998) The cell biology of beta-amyloid precursor protein and presenilin in Alzheimer's disease. Trends Cell Biol 8:447-453
20. Sinha S, Anderson JP, Barbour R, Basi GS, Caccavello R, Davis D, Doan M, Dovey HF, Frigon N, Hong J, Jacobson-Croak K, Jewett N, Keim P, Knops J, Lieberburg I, Power M, Tan H, Tatsuno G, Tung J, Schenk D, Seubert P, Suomensaari SM, Wang S, Walker D, Zhao J, Mcconlogue L, John V (1999) Purification and cloning of amyloid precursor protein beta-secretase from human brain. Nature 402:537-540
21. Tishkoff SA, Ruano G, Kidd JR, Kidd KK (1996) Distribution and frequency of a polymorphic Alu insertion at the plasminogen activator locus in humans. Hum Genet 97:759-764
22. Tucker HM, Kihiko M, Caldwell JN, Wright S, Kawarabayashi T, Price D, Walker D, Scheff S, McGillis JP, Rydel RE, Estus S (2000) The plasmin system is induced by and degrades amyloid-beta aggregates. J Neurosci 20:3937-3946
23. Van Nostrand WE, Porter M (1999) Plasmin cleavage of the amyloid beta-protein: alteration of secondary structure and stimulation of tissue plasminogen activator activity. Biochemistry 38:11570-11576
24. Vassar R, Bennett BD, Babu-Khan S, Kahn S, Mendiaz EA, Denis P, Teplow DB, Ross S, Amarante P, Loeloff R, Luo Y, Fisher S, Fuller J, Edenson S, Lile J, Jarosinski MA, Biere AL, Curran E, Burgess T, Louis JC, Collins F, Treanor J, Rogers G, Citron M (1999) Beta-secretase cleavage of Alzheimer's amyloid precursor protein by the transmembrane aspartic protease BACE. Science 286:735-741
25. Westfal P, Young S (1993) Resampling-based multiple testing: examples and methods for p-value adjustment. Wiley series in probability and mathematical statistics. Hoboken, NJ, USA. Wiley
26. Yan R, Bienkowski MJ, Shuck ME, Miao H, Tory MC, Pauley AM, Brashier JR, Stratman NC, Mathews WR, Buhl AE, Carter DB, Tomasselli AG, Parodi LA, Heinrikson RL, Gurney ME (1999) Membrane-anchored aspartyl protease with Alzheimer's disease beta-secretase activity. Nature 402:533-537