Implications of presenilin 1 mutations in Alzheimer's disease

Mechanisms of Ageing and Development

Volumn 107, Issue 3, 1999, Pages 281-298

  Komano, Hiroto ^a   Sudoh, Shinji ^a   Kawamura, Yuuki ^a   Wang, Rong ^b   Yanagisawa, Katsuhiko ^a  

^a NATIONAL CENTER FOR GERIATRICS AND GERONTOLOGY   (Japan)

^b ROCKEFELLER UNIVERSITY   (United States)

Author keywords

Alzheimer's disease; Amyloid protein; Presenilin 1

Indexed keywords

AMYLOID BETA PROTEIN; BREFELDIN A; MONENSIN; PRESENILIN 1;

ALZHEIMER DISEASE; ANIMAL CELL; CONFERENCE PAPER; GENE; GENE MUTATION; GOLGI COMPLEX; IMMUNOBLOTTING; IMMUNOPRECIPITATION; MASS SPECTROMETRY; MOUSE; NONHUMAN; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL;

ANIMALIA; MURINAE;

EID: 0033558951     PISSN: 00476374     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0047-6374(98)00135-3     Document Type: Conference Paper

References (39)

1. Asami-Odaka, A., Ishibashi, Y., Kikuchi, K., Kitada, C., Suzuki, N., 1995. Long amyloid p-protein secreted from wild-type human neuroblastoma IMR-32 cells. Biochemistry 34, 10272-10278.
2. Borchelt, D.R., Thinakaran, G., Ecknan, 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., Sisodia, S.S., 1996. Familial Alzheimer's disease-linked presenilin 1 variants elevate Aβ1-42/1-40 ratio in vitro and in vivo. Neuron 17, 1005-1013.
3. Busciglio, J., Gabuzda, D.H., Matsudaira, P., Yankner, B.A., 1993. Generation of β-amyloid in the secretory pathway in neuronal and nonneuronal cells. Proc. Natl. Acad. Sci. USA 90, 2092-2096.
4. Buxbaum, J. D., Gandy, S.E., Ciccheti, P., Ehrlich, M., Czernik, A.J., Fracasso, R.P., Ramabhadran, T.V., Unterbeck, A., Greengard, P., 1990. Processing of Alzheimer β/A4 amyloid precursor protein: modulation by agents that regulate protein phosphorylation. Proc. Natl. Acad. Sci. USA 87, 6003-6006.
5. 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., Selkoe, D.J., 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.
6. Cook, D.G., Forman, M.S., Sung, J.C., Leight, S., Kolson, D.L., Iwatsubo, T., Lee, V.M.-Y., Doms, R.W., 1997. Alzheimer's Aβ (1-42) is generated in the endoplasmic reticulum/intermediate compartment of NT2N cells. Nat. Med. 3, 1021-1023.
7. 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., Younkin, S., 1996. Increased amyloid-β42(43) in brains of mice expressing mutant presenilin 1. Nature 383, 710-713.
8. Fuller, S.J., Storey, E., Li, Q.-X., Smith, A.I., Beyreuther, K., Masters, C.L., 1995. Intracellular production of βA4 amyloid of Alzheimer's disease: modulation by phosphoramidon and lack of coupling to the secretion of the amyloid precursor protein. Biochemistry 34, 8091-8098.
9. Haass, C., 1997. Presenilins: genes for life and death. Neuron 18, 687-690.
10. Haass, C., Selkoe, D.J., 1993. Cellular processing of β-amyloid precursor protein and the genesis of amyloid β-peptide. Cell 75, 1039-1042.
11. Haass, C, Schlossmacher, M.G., Hung, A.Y., Vigo-Pelfrey, C., Mellon, A., Ostaszewski, B.L., Lieberburg, I., Koo, E.H., Schenk, D., Telplow, D.B., Selkoe, D.J., 1992. Amyloid β-peptide is produced by cultured cells during normal metabolism. Nature 359, 322-325.
12. Hartmann, T., Bieger, S.C., Brtihl, B., Tienari, P.J., Ida, N., Allsop, D., Roberts, G.W., Masters, C.L., Dotti, C.G., Unsicker, K., Beyreuther, K., 1997. Distinct sites of intracellular production for Alzheimer's disease Aβ40/42 amyloid peptides. Nat. Med. 3, 1016-1020.
13. Ida, N., Hartmann, T., Pantel, J., Schrdder, J., Zerfass, R., Fdrstl, H., Sandbrink, R., Masters, C. L., Beyreuther, K., 1996. Analysis of heterogeneous βA4 peptides in human cerebrospinal fluid and blood by a newly developed sensitive Western blot assay. J. Biol. Chem. 271, 22908-22914.
14. Iwatsubo, T., Odaka, A., Suzuki, N., Mizusawa, H., Nukita, N., Ihara, Y., 1994. Visualization of Aβ42(43) and Aβ40 in senile plaques with end-specific Aβ monoclonals: evidence that an initially deposited species is Aβ42(43). Neuron 13, 45-53.
15. Jarrett, J.T., Berger, E.P., Lansbury, P.T. Jr., 1993. The carboxy terminus of the β-amyloid protein is critical for the seeding of amyloid formation: implications for the pathogenesis of Alzheimer's disease. Biochemistry 32, 4693-4697.
16. Kang, J., Lemaire, H.G., Unterbeck, A., Salbaum, J.M., Masters, C.L., Grzeschik, K.H., 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.
17. Kida, E., Wisniewski, K.E., Wisniewski, H.M., 1995. Early amyloid-β deposits show different immunoreactivity to the amino- and carboxy-terminal regions of β-peptide in Alzheimer's disease and Down's syndrome brain. Neurosci. Lett. 193, 105-108.
18. Kozak, M., 1986. Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes. Cell 44, 283-292.
19. Lah, J.J., Heilman, C.J., Nash, N.R., Rees, H., Yi, H., Counts, S.E., Levey, A.I., 1997. Light and electron microscopic localization of presenilin-1 in primate brain. J. Neurosci. 17, 1971-1980.
20. Lippincott, S.J., Yuan, L.C., Bonifacino, J.S., Klausner, R.D., 1989. Rapid redistribution of Golgi proteins into the ER in cells treated with brefeldin A: evidence for membrane cycling from Golgi to ER. Cell 56, 801-813.
21. Martin, B.L., Schrader-Fischer, G., Busciglio, J., Duke, M., Paganetti, P., Yankner, B.A., 1995. Intracellular accumulation of β-amyloid in cells expressing the Swedish mutant amyloid precursor protein. J. Biol. Chem. 270, 26727-26730.
22. Rogaev, E.I., Sherrington, R., Rogaev, E.A., Levesque, G., Ikeda, M., Liang, Y., Chi, H., Lin, C., Li, G., Holman, K., Tsuda, T., Mar, L., Sorbi, S., Nacmias, B., Piacentini, S., Amaducci, L., Chumakov, I., Cohen, D., Lannfelt, L., Fraser, P.E., Rommens, J.M., St George-Hyslop, P., 1995. Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome I related to the Alzheimer's disease type 3 gene. Nature 376, 775-778.
23. Saido, T.C., Yokota, M., Maruyama, K., Yamao-Harigaya, W., Tani, E., Ihara, Y., Kawashima, S., 1994. Spatial resolution of the primary β-amyloidogenic process induced in postischemic hippocampus. J. Biol. Chem. 269, 15253-15257.
24. N3(pE), in senile plaques. Neuron 14, 457-466.
25. Saido, T.C., Yamao-Harigaya, W., Iwatsubo, T., Kawashima, S., 1996. Amino- and carboxyl-terminal heterogeneity of β-amyloid peptides deposited in human brain. Neurosci. Lett. 215, 173-176.
26. Sato, H, Kamino, K., Miki, T., Doi, A., Ii, K., St. George-Hyslop, P., Ogihara, T., Sakaki, Y., 1998. Splicing mutation of Presenilin-1 gene for early-onset familial Alzheimer's disease. Hum. Mut. Suppl. 1, 91-94.
27. Scheuner, D., Ecknan, 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., 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 I and 2 and APP mutations linked to familial Alzheimer's disease. Nat. Med. 2, 864-870.
28. Selkoe, D.J., 1996. Amyloid β-protein and the genetics of Alzheimer's disease. J. Biol. Chem. 271, 18295-18298.
29. Sherrington, R., Rogaev, E.I., Liang, Y., Rogaev, E.A., Levesque, G., Ikeda, M., Chi, H., Lin, C., Li, G., Holman, K., Tsuda, T., Mar, L., Foncin, J.-F., Bruni, A., Montesi, M.P., Sorbi, S., Rainero, I., Pinessi, L., Nee, L., Chumakov, I., Pollen, D.A., Roses, A.D., Fraser, P.E., Rommens, J.M., St George-Hyslop, P., 1995. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 375, 754-760.
30. Tamaoka, A., Odaka, A., Ishibashi, Y., Usami, M., Sahara, N., Suzuki, N., Nukina, N., Mizusawa, H., Shoji, S., Kanazawa, I., Mori, H., 1994. APP717 missense mutation affects the ratio of amyloid β protein species (Aβ1-42/43 and Aβ1-40) in familial Alzheimer's disease brain. J. Biol. Chem. 269, 32721-32724.
31. Tartakoff, A.M., 1983. Perturbation of vesicular traffic with the carboxylic ionophore monensin. Cell 32, 1026-1028.
32. 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., Sisodia, S.S., 1996. Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo. Neuron 17, 181-190.
33. Tienari, P.J., Ida, N., Ikonen, E., Simons, M., Weidemann, A., Multhaup, G., Masters, C.L., Dotti, C.G., Beyreuther, K., 1997. Intracellular and secreted Alzheimer β-amyloid species are generated by distinct mechanisms in cultured hippocampal neurons. Proc. Natl. Acad. Sci. USA 94, 4125-4130.
34. Tomita, T., Maruyama, K., Saido, T.C., Kume, H., Shinozaki, K., Tokuhiro, S., Capell, A., Walter, J., Grunberg, J., Haass, C, Iwatsubo, T., Obata, K., 1997. The presenilin 2 mutation (N1411) 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.
35. Turner, R.S., Suzuki, N., Chyung, A.S.C., Yunkin, S.G., Lee, V.M.-Y., 1996. Amyloids β40 and β42 are generated intracellularly in cultured human neurons and their secretion increases with maturation. J. Biol. Chem. 271, 8966-8970.
36. Vigo-Pelfrey, C., Lee, D., Keim, P., Lieberburg, I., Schenk, D.B., 1993. Characterization of β-amyloid peptide from human cerebrospinal fluid. J. Neurochem. 61, 1965-1968.
37. Wang, R., Sweeney, D., Gandy, S.E., Sisodia, S.S., 1996. The profile of soluble amyloid β protein in cultured cell media. J. Biol. Chem. 271, 31894-31902.
38. Wild-Bode, C., Yamazaki, T., Capell, A., Leimer, U., Steiner, H., Ihara, Y., Haass, C., 1997. Intracellular generation and accumulation of amyloid β-peptide terminating at amino acid 42. J. Biol. Chem. 272, 16805-16808.
39. Yusta, B., Ortiz-Caro, J., Pascual, A., Aranda, A., 1988. Comparison of the effects of forskolin and dibutyryl cyclic AMP in neuroblastoma cells: evidence that some of the actions of dibutyryl cyclic AMP are mediated by butyrate. J. Neurochem. 51, 1808-1818.