Presenilin 1 mutations linked to familial Alzheimer's disease increase the intracellular levels of amyloid β-protein 1-42 and its N-terminally truncated variant(s) which are generated at distinct sites

Journal of Neurochemistry

Volumn 71, Issue 4, 1998, Pages 1535-1543

  Sudoh, Shinji ^a   Kawamura, Yuuki ^a   Wang, Rong ^b   Saido, Takaomi C ^e   Oyama, Fumitaka ^d   Sakaki, Yoshiyuki ^c   Komano, Hiroto ^b   Yanagisawa, Katsuhiko ^a  

^a NATIONAL CENTER FOR GERIATRICS AND GERONTOLOGY   (Japan)

^b Nihon Institute of Medical Science   (Japan)

^c UNIVERSITY OF TOKYO   (Japan)

^d RIKEN BRAIN SCIENCE INSTITUTE   (Japan)

^e ROCKEFELLER UNIVERSITY   (United States)

Author keywords

Alzheimer's disease; Amyloid protein; Presenilin 1

Indexed keywords

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

ALZHEIMER DISEASE; AMINO TERMINAL SEQUENCE; ANIMAL CELL; ARTICLE; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; FAMILIAL DISEASE; GENE MUTATION; GENETIC LINKAGE; GOLGI COMPLEX; IMMUNOBLOTTING; MOUSE; NEUROBLASTOMA CELL; NONHUMAN; ONSET AGE; PRIORITY JOURNAL; PROTEIN PROCESSING; PROTEIN VARIANT;

ANIMALIA;

EID: 0031686460     PISSN: 00223042     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1471-4159.1998.71041535.x     Document Type: Article

References (29)

1. Asami-Odaka A., Ishibashi Y., Kikuchi K., Kitada C., and Suzuki N. (1995) Long amyloid β-protein secreted from wild-type human neuroblastoma IMR-32 cells. Biochemistry 34, 10272-10278.
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 ratio in vitro and in vivo. Neuron 17, 1005-1013.
3. 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. 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.
4. Cook D. G., Forman M. S., Sung J. C., Leight S., Kolson D. L., Iwatsubo T., Lee V. M.-Y., and 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.
5. 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 of mice expressing mutant presenilin 1. Nature 383, 710-713.
6. Fuller S. J., Storey E., Li Q.-X., Smith A. I., Beyreuther K., and 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.
7. Haass C. (1997) Presenilins: genes for life and death. Neuron 18, 687-690.
8. Haass C. and Selkoe D. J. (1993) Cellular processing of β-amyloid precursor protein and the genesis of amyloid β-peptide. Cell 75, 1039-1042.
9. Hartmann T., Bieger S. C., Brühl B., Tienari P. J., Ida N., Allsop D., Roberts G. W., Masters C. L., Dotti C. G., Unsicker K., and Beyreuther K. (1997) Distinct sites of intracellular production for Alzheimer's disease Aβ40/42 amyloid peptides. Nat. Med. 3, 1016-1020.
10. Ida N., Hartmann T., Pantel J., Schröder J., Zerfass R., Forstl H., Sandbrink R., Masters C. L., and 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.
11. Kida E., Wisniewski K. E., and Wisniewski H. M. (1995) Early amyloid-β deposits show different immunoreactivity to the amino- and carboxy-terminal regions of beta-peptide in Alzheimer's disease and Down's syndrome brain. Neurosci. Lett. 193, 105-108.
12. Kozak M. (1986) Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes. Cell 44, 283-292.
13. Lah J. J., Heilman C. J., Nash N. R., Rees H., Yi H., Counts S. E., and Levey A. I. (1997) Light and electron microscopic localization of presenilin-1 in primate brain. J. Neurosci. 17, 1971-1980.
14. Lippincott S. J., Yuan L. C., Bonifacino J. S., and 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.
15. Martin B. L., Schrader-Fischer G., Busciglio J., Duke M., Paganetti P., and Yankner B. A. (1995) Intracellular accumulation of β-amyloid in cells expressing the Swedish mutant amyloid precursor protein. J. Biol. Chem. 270, 26727-26730.
16. 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., and St. George-Hyslop P. (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.
17. Rogaev E. I., Sherrington R., Wu C., Levesque G., Liang Y., Rogaeva E. A., Ikeda M., Holman K., Lin C., Lukiw W. J., de Jong P. J., Fraser P. E., Rommens J. M., and St. George-Hyslop P. (1997) Analysis of the 5′ sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer's disease. Genomics 40, 415-424.
18. N3(pE), in senile plaques. Neuron 14, 457-466.
19. Saido T. C., Yamao-Harigaya W., Iwatsubo T., and Kawashima S. (1996) Amino- and carboxyl-terminal heterogeneity of β-amyloid peptides deposited in human brain. Neurosci. Lett. 215, 173-176.
20. Sato H., Kamino K., Miki T., Doi A., Ii K., George-Hyslop P. H., Ogihara T., and Sakaki Y. (1998) Splicing mutation of presenilin-1 gene for early-onset familial Alzheimer's disease. Hum. Mutat. (Suppl.), S91-S94.
21. 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.
22. 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., Ramero I., Pinessi L., Nee L., Chumakov I., Pollen D. A., Roses A. D., Fraser P. E., Rommens J. M., and St. George-Hyslop P. (1995) Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 375, 754-760.
23. Tartakoff A. M. (1983) Perturbation of vesicular traffic with the carboxylic ionophore monensin. Cell 32, 1026-1028.
24. 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. S. (1996) Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo. Neuron 17, 181-190.
25. Tienari P. J., Ida N., Ikonen E., Simons M., Weidemann A., Multhaup G., Masters C. L., Dotti C. G., and 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.
26. Tomita T., Maruyama K., Saido T. C., Kume H., Shinozaki K., Tokuhiro 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.
27. Turner R. S., Suzuki N., Chyung A. S. C., Younkin S. G., and 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.
28. Wang R., Sweeney D., Gandy S. E., and Sisodia S. S. (1996) The profile of soluble amyloid β protein in cultured cell media. J. Biol. Chem. 271, 31894-31902.
29. Wild-Bode C., Yamazaki T., Capell A., Leimer U., Steiner H., Ihara Y., and Haass C. (1997) Intracellular generation and accumulation of amyloid β-peptide terminating at amino acid 42. J. Biol. Chem. 272, 16085-16088.