α-Secretase-derived product of β-amyloid precursor protein is decreased by presenilin 1 mutations linked to familial Alzheimer's disease

Journal of Neurochemistry

Volumn 69, Issue 6, 1997, Pages 2494-2499

  Ancolio, Karine ^a   Marambaud, Philippe ^a   Dauch, Pascale ^a   Checler, Frédéric ^a  

^a INSTITUT DE PHARMACOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

Author keywords

APP ; Familial Alzheimer's disease; Presenilin 1; Secretase; Amyloid peptide; Amyloid precursor protein

Indexed keywords

AMYLOID BETA PROTEIN; AMYLOID PRECURSOR PROTEIN; PEPTIDE FRAGMENT; PROTEINASE;

ALZHEIMER DISEASE; ARTICLE; CONTROLLED STUDY; FAMILIAL DISEASE; GENE MUTATION; GENE OVEREXPRESSION; HUMAN; HUMAN CELL; PRIORITY JOURNAL; PROTEIN SECRETION;

EID: 0030667339     PISSN: 00223042     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1471-4159.1997.69062494.x     Document Type: Article

References (41)

1. Barelli H., Lebeau A., Vizzavona J., Delaere P., Chevallier N., Drouot C., Marambaud P., Ancolio K., Buxbaum J. D., Khorkova O., Heroux J., Sahasrabudhe S., Martines J., Warter J.-M., Mohr M., and Checler F. (1997) Characterization of new polyclonal antibodies specific for 40 and 42 amino acid-long amyloid β peptides: their use to examine the cell biology of presenilins and the immunohistochemistry of sporadic Alzheimer's disease and cerebral amyloid angiopathy cases. Mol. Med. 3, 695-707.
2. Borchelt D. R., Thinakaran G., Eckman C. B., Lee M. K., Davenport F., Ratovitsky T., Prada C.-M., Kim G., Seekins S., Yager D., Slunt H. H., Wang R., Seeger M., Levey A. I., Gandy S. E., Copeland N. G., Jenkins N. A., Price D. L., Younkin S. G., and Sisodia S. S. (1996) Familial Alzheimer's disease-linked presenilin 1 variants elevate Aβ1-42/1-40 in vitro and in vivo. Neuron 17, 1005-1013.
3. Burdick D., Soreghan B., Kwon M., Kosmoski J., Knauer M., Henschen A., Yates J., Cotman C., and Glabe C. (1992) Assembly and aggregation properties of synthetic Alzheimer's A4/β amyloid peptide analogs. J. Biol. Chem. 267, 546-554.
4. Checler F. (1995) Processing of the β-amyloid precursor protein and its regulation in Alzheimer's disease. J. Neurochem. 65, 1431-1444.
5. Chevallier N., Jiracek J., Vincent B., Baur C. P., Spillantini M. G., Goedert M., Dive V., and Checler F. (1997) Examination of the role of endopeptidase 3.4.24.15 in Aβ secretion by human transfected cells. Br. J. Pharmacol. 121, 556-562.
6. Citron M., Westaway D., Xia W., Carlson G., Diehl T., Levesque G., Johnson-Wood K., Lee M., Seubert P., Davis A., Kholodenko D., Motter R., Sherrington R., Perry B., Yao H., Strome R., Lieberburg I., Rommens J., Kim S., Schenk D., Fraser P., St. George Hyslop P., and Selkoe D. (1997) Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid β-protein in both transfected cells and transgenic mice. Nat. Med. 3, 67-72.
7. Cook D. G., Sung J. C., Golde T. E., Felsenstein K. M., Wojczyk B. S., Tanzi R. E., Trojanowski J. Q., Lee V. M.-Y., and Doms R. W. (1996) Expression and analysis of presenilin 1 in a human neuronal system: localization in cell bodies and dendrites. Proc. Natl. Acad. Sci. USA 93, 9223-9228.
8. Dauch P., Champigny G., Ricci J.-E., and Checler F. (1997) Lack of effect of presenilin1, βAPP and their Alzheimer's disease-related mutated forms on xenopus oocytes membrane current. Neurosci. Lett. 221, 85-88.
9. De Strooper B., Beullens M., Contreras B., Levesque L., Craessaerts K., Cordell B., Moechars D., Bollen M., Fraser P., St. George-Hyslop P., and Van Leuven F. (1997) Phosphorylation, subcellular localization, and membrane orientation of the Alzheimer's disease-associated presenilins. J. Biol. Chem. 272, 3590-3598.
10. Dewji N. N. and Singer S. J. (1996) Specific transcellular binding between membrane proteins crucial to Alzheimer disease. Proc. Natl. Acad. Sci. USA 93, 12575-12580.
11. Doan A., Thinakaran G., Borchelt D. R., Slunt H. H., Ratovitsky T., Podlisny M., Selkoe D. J., Seeger M., Gandy S. E., Price D. L., and Sisodia S. S. (1996) Protein topology of presenilin 1. Neuron 17, 1023-1030.
12. Duff K., Eckman C., Zehr C., Yu X., Prada C-M., Perez-Tur J., Hutton M., Buee L., Harigaya Y., Yager D., Morgan D., Gordon M. N., Holcomb L., Refolo L., Zenk B., Hardy J., and Younkin S. (1996) Increased amyloid-β42(43) in brains expressing mutant presenilin 1. Nature 383, 710-713.
13. Haass C. (1996) Presenile because of presinilin: the presenilin genes and early onset Alzheimer's disease. Curr. Opin. Neurol. 9, 254-259.
14. Kovacs D. M., Fausett H. J., Page K. J., Kim T. W., Moir R. D., Merriam D. E., Hollister R. D., Hallmark O. G., Mancini R., Felsenstein K. M., Hyman B. T., Tanzi R. E., and Wasco W. (1996) Alzheimer-associated presenilins 1 and 2: neuronal expression in brain and localization to intracellular membranes in mammalian cells. Nat. Med. 2, 224-229.
15. Kunkel T. A. (1985) Rapid and efficient site-specific mutagenesis without phenotypic selection. Proc. Natl. Acad. Sci. USA 82, 488-492.
16. Lemere C. A., Lopera F., Kosik K. S., Lendon C. L., Ossa J., Saido T. C., Yamaguchi H., Ruiz A., Martinez A., Madrigal L., Hincapie L., Arango L. J. C., Anthony D. C., Koo H., Goate A. M., Selkoe D. J., and Arango V. J. C. (1996) The E280A presenilin 1 Alzheimer mutation produces increased Aβ42 deposition and severe cerebellar pathology. Nat. Med. 2, 1146-1150.
17. Levitan D. and Greenwald I. (1995) Facilitation of lin-12-mediated signalling by sel-12, a Caenorhabditis elegans S182 Alzheimer's disease gene. Nature 377, 351-354.
18. Levy-Lahad E., Wasco W., Poorkaj P., Romano D. M., Oshima J., Pettingell W. H., Yu C., Jondro P. D., Schmidt S. D., Wang K., Crowley A. C., Fu Y. H., Guenette S. Y., Galas D., Nemens E., Wisjman E. M., Bird T. D., Schellenberg G. D., and Tanzi R. (1995a) Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 269, 973-977.
19. Levy-Lahad E., Wijsman E. M., Nemens E., Anderson L., Goddard A. B., Weber J. L., Bird T. D., and Schellenberg G. D. (1995b) A familial Alzheimer's disease locus on chromosome 1. Science 269, 970-973.
20. Li J., Ma J., and Potter H. (1995) Identification and expression analysis of a potential familial Alzheimer disease gene on chromosome 1 related to AD3. Proc. Natl. Acad. Sci. USA 92, 12180-12184.
21. Mann D. M. A., Iwatsubo T., Cairns N. J., Lantos P. L., Nochlin D., Sumi S. M., Bird T. D., Poorkaj P., Hardy J., Hutton M., Prihar G., Crook R., Rossor M. N., and Haltia M. (1997) Amyloid β protein (Aβ) deposition in chromosome 14-linked Alzheimer's disease: predominance of Aβ42(43). Ann. Neurol. 40, 149-156.
22. Marambaud P., Wilk S., and Checler F. (1996) Protein kinase A phosphorylation of the proteasome: a contribution to the α-secretase pathway in human cells. J. Neurochem. 67, 2616-2619.
23. Marambaud P., Chevallier N., Barelli H., Wilk S., and Checler F. (1997) Proteasome contributes to the α-secretase pathway of amyloid precursor protein in human cells. J. Neurochem. 68, 698-703.
24. Mullan M., Houlden H., Windelspecht M., Fidani L., Lombardi C., Diaz P., Rossor M., Crook R., Hardy J., Duff K., and Crawford F. (1992) A locus for familial early-onset Alzheimer's disease on the long arm of chromosome 14, proximal to the alphal-antichymotrypsin gene. Nat. Genet. 2, 340-342.
25. Perez-Tur J., Froelich S., Prihar G., Crook R., Baker M., Duff K., Wragg M., Busfield F., Lendon C., Clark R. F., Roques P., Fuldner R. A., Johnston J., Cowburn R., Forsell C., Axelman K., Lilius L., Houlden H., Karran E., Roberts G. W., Rossor M., Adams M. D., Hardy J., Goate A., Lannfelt L., and Hutton M. (1995) A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene. Neuroreport 7, 297-301.
26. Rogaev E. I., Sherrington R., Rogaeva E. A., Levesque G., Ikeda M., Liang Y., Chi H., Lin C., Holman K., Tsuda T., Mar L., Sorbi S., Nacmias B., Piacentini S., Amaducci L., Chumakov L, Cohen D., Lannfelt L., Fraser P. E., Rommens J. M., and St. Georges-Hyslop P. H. (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.
27. Schellenberg G. D., Bird T. D., Wijsman E. M., Orr H. T., Anderson L., Nemens E., White J. A., Bonnycastle L., Weber J. L., Alonso M. E., Potter H., Heston L. L., and Martin G. M. (1992) Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14. Science 258, 668-671.
28. Scheuner D., Eckman C., Jensen M., Song X., Citron M., Suzuki N., Bird T. D., Hardy J., Hutton M., Kukull W., Larson E., Levy-lahad E., Viitanen M., Peskind E., Poorkaj P., Schellenberg G., Tanzi R., Wasco W., Lannfelt L., Selkoe D., and Younkin S. (1996) Secreted amyloid β-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.
29. Selkoe D. J. (1994) Normal and abnormal biology of the beta-amyloid precursor protein. Annu. Rev. Neurosci. 17, 489-517.
30. Sherrington R., Rogaev E. I., Liang Y., Rogaeva E. A., Levesque G., Ikeda M., Chi H., Lin C., Li G., Holman K., Tsuda T., Mar L., Foncin J. F., Bruni A. C., Montesi M. P., Sorbi S., Rainero I., Pinessi L., Nee L., Chumakov I., Pollen D., Brookes A., Sanseau P., Polinski R. J., Wasco W., Da Silva H. A. R., Haines J. L., Pericak-Vance M. A., Tanzi R. E., Roses A. D., Fraser P.E., Rommens J. M., and St. George-Hyslop P. H. (1995) Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 375, 754-760.
31. Shoji M., Golde T. E., Ghiso J., Cheung T. T., Estus S., Shaffer M., Cai X. D., McKay D. M., Tintner R., Frangione B., and Younkin S. G. (1992) Production of the Alzheimer amyloid βprotein by normal proteolytic processing. Science 258, 126-129.
32. St. George-Hyslop P., Haines J., Rogaev E., Mortilla M., Vaula G., Pericak-Vance M., Foncin J. F., Montesi M., Bruni A., Sorbi S., Rainere I., Pinessi L., Pollen D., Polinsky R., Nee L., Kennedy J., Macciardi F., Rogaeva E., Liang Y., Alexandrova N., Lukiw W., Schlumpf K., Tanzi R., Tsuda T., Fairer L., Cantu J. M., Duara R., Amaducci L., Bergamini L., Gusella J., Roses A., and McLachlan D. C. (1992) Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14. Nat. Genet. 2, 330-334.
33. Tanzi R. E., Kovacs D. M., Kim T.-W., Moir R. D., Guenette S. Y., and Wasco W. (1996) The gene defects responsible for familial Alzheimer's disease. Neurobiol. Dis. 3, 159-168.
34. Thinakaran G., Borchelt D. R., Lee M. K., Slunt H. H., Spitzer L., Kim G., Ratovitsky T., Davenport F., Nordstedt C., Seeger M., Hardy J., Levey A. I., Gandy S. E., Jenkins N. A., Copeland N. G., Price D. L., and Sisodia S. (1996) Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo. Neuron 17, 181-190.
35. Tomita T., Maruyama K., Saido T. C., Kume H., Shinozaki K. T. S., Capell A., Walter J., Grünberg J., Haass C., Iwatsubo T., and Obata K. (1997) The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) increases the secretion of amyloid β protein ending at the 42nd (or 43rd) residue. Proc. Natl Acad. Sci. USA 94, 2025-2030.
36. Van Broeckhoven C. (1995) Presenilins and Alzheimer disease. Nat. Genet. 11, 230-232.
37. Van Broeckhoven C., Backhovens H., Cruts M., De Winter G., Bruyland M., Cras P., and Martin J. J. (1992) Mapping of a gene predisposing to early-onset Alzheimer's disease to chromosome 14q24.3. Nat. Genet. 2, 335-339.
38. Walter J., Capell A., Grünberg J., Pesold B., Schindzielorz A., Prior R., Podlisny M. B., Fraser P., St. George Hyslop P., Selkoe D. J., and Haass C. (1996) The Alzheimer's disease-associated presenilins are differentially phosphorylated proteins located predominantly within the endoplasmic reticulum. Mol. Med. 2, 673-691.
39. Weidemann A., Köning G., Bunke D., Fischer P., Salbaum J. M., Masters C. L., and Beyreuther K. (1989) Identification, biogenesis, and localization of precursors of Alzheimer's disease A4 amyloid protein. Cell 57, 115-126.
40. Weidemann A., Paliga K., Dürrwang U., Czech C., Evin G., Masters C., and Beyreuther K. (1997) Formation of stable complexes between two Alzheimer's disease gene products: presenilin-2 and β-amyloid precursor protein. Nat. Med. 3, 328-332.
41. Xia W., Zhang J., Kholodenko D., Citron M., Podlisny M. B., Teplow D. B., Haass C., Seubert P., Koo E. H., and Selkoe D. J. (1997) Enhanced production and oligomerization of the 42-residue amyloid β-protein by Chinese hamster ovary cells stably expressing mutant presenilins. J. Biol. Chem. 272, 7977-7982.