Cell and molecular neurobiology of presenilins: A role for the endoplasmic reticulum in the pathogenesis of Alzheimer's disease?

Journal of Neuroscience Research

Volumn 50, Issue 4, 1997, Pages 505-513

  Mattson, Mark P ^a,b   Guo, Qing ^a  

^a UNIVERSITY OF KENTUCKY   (United States)

^b UNIVERSITY OF KENTUCKY   (United States)

Author keywords

Amyloid peptide; Amyloid precursor protein; Apoptosis; Calcium homeostasis; Inositol trisphosphate; Muscarinic cholinergic; Nerve growth factor; Reactive oxygen species; Vitamin E

Indexed keywords

AMYLOID BETA PROTEIN; AMYLOID PRECURSOR PROTEIN; INOSITOL TRISPHOSPHATE; NERVE GROWTH FACTOR; REACTIVE OXYGEN METABOLITE;

ALZHEIMER DISEASE; APOPTOSIS; CALCIUM HOMEOSTASIS; CELLULAR DISTRIBUTION; ENDOPLASMIC RETICULUM; GENE MUTATION; HUMAN; NEUROBIOLOGY; PRIORITY JOURNAL; PROTEIN PROCESSING; SHORT SURVEY;

ALZHEIMER DISEASE; ANIMALS; ENDOPLASMIC RETICULUM; HUMANS; MEMBRANE PROTEINS; MUTATION; NEURONS; PRESENILIN-1; PRESENILIN-2; SUBCELLULAR FRACTIONS;

EID: 0030693292     PISSN: 03604012     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4547(19971115)50:4<505::AID-JNR1>3.0.CO;2-I     Document Type: Short Survey

References (69)

1. Benzi G, Moretti A (1995): Are reactive oxygen species involved in Alzheimer's disease? Neurobiol Aging 16:661-674.
2. Berezovska O, Xia MQ, Page K, Wasco W, Tanzi RE, Hyman BT (1997): Developmental regulation of presenilin mRNA expression parallels notch expression. J Neuroputhol Exp Neurol 56:40-44.
3. Borchelt DR, Thinukaran G, Eckman CB, Lee MK, Davenport F, Ratovitsky T, Prada C-M, Kim G, Seekins S, Yager D, Slunt HH, Wang R, Seeger M, Levey AI, Candy SE, Copeland NG, Jenkins NA, Price DL, Younkin SG, Sisodia SS (1996): Familial Alzheimer's disease-linked presenilin 1 variants elevate Aβ1-42/ 1-40 ratio in vitro and in vivo. Neuron 17:1005-1013.
4. Busciglio J, Hartmann H, Lorenzo A, Wong C, Baumunn K, Sommer B, Staufenbiel M, Yankner BA (1997): Neuronal localization of presenilin-1 and association with amyloid plaques and neurofibrillary tangles in Alzheimcr's disease. J Neurosci 17:5101-5107.
5. Conlon RA, Reaume AG, Rossant J (1995): Notchl is required for the coordinate segmentation of somites. Development 121:1533-1545.
6. Cook DB, Sung JC, Golde TE, Felsenstein KM, Wojczyk BS, Tanzi RE, Trojanowski JQ, Lee VMY, Doms RW (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.
7. Cribbs DH, Chen L, Bendle SM, La Ferla FM (1996): Widespread neuronal expression of the presenilin-1 early-onset Alzheimer's disease in the murine brain. Am J Pathol 148:1797-1806.
8. Deng G, Pike CJ, Cotman CW (1996): Alzheimer-associated presenilin-2 confers increased sensitivity to apoptosis in PC 12 cells. FEBS Lett 397:50-54.
9. Doan A, Thinakaran G, Borchelt DR, Slum HH, Ratovistsky T, Podlisny M, Selkoe DJ, Seeger M, Gandy SE, Price DL, Sisodia SS (1996): Protein topology of presenilin 1. Neuron 17:1023-1030.
10. Duff K Eckman C, Zehr C, et al. (1996): Increased amyloid-β42(43) in brains of mice expressing mutant presenilin 1. Nature 383:710-713.
11. Elder GA, Tezapsidis N, Carter J, Shioi J, Bouras C, Li D, Johnston JM, Efthimiopoulos S, Friedrich VL, Robakis NK (1996): Identification and neuron specific expression of the S182/presenilin 1 protein in human and rodent brains. J Neurosci Res 45:308-320.
12. Furukawa K, Sopher B, Rydel RE, Begley JG, Martin GM, Mattson MP (1996): Increased activity-regulating and neuroprotective efficacy of α-secretase-derived secreted APP is conferred by a C-terminal heparin-binding domain. J Neurochem 67:1882-1896.
13. Giannakopoulos P, Bouras C, Kovari E, Shioi J, Tezapsidis N, Hof PR, Robakis NK (1997): Presenilin-1 immunoreactive neurons are preserved in late-onset Alzhcimer's disease. Am J Pathol 150:429-436.
14. Goodman Y, Bruce AJ,. Cheng B, Mattson MP (1996): Estrogens attenuate and corticosterone exacerbates cxcitotoxicity, oxidative injury and amyloid β-peptide toxicity in hippocampal neurons. J Neurochem 66:1836-1844.
15. Guo Q, Furukawa K, Sopher BL, Pham DG, Xie J, Robinson N, Martin GM, Mattson MP (1996): Alzheimer's PS-1 mutation perturbs calcium homeostasis and sensitizes PC 12 cells to death induced by amyloid β-peptide. Neuroreport 8:379-383.
16. Guo G, Sopher BL, Pham DG, Furukawa K, Robinson N, Martin GM, Mattson MP (1997): Alzheimer's presenilin mutation sensitizes neural cells to apoptosis induced by trophic factor withdrawal and amyloid β-peptide: Involvement of calcium and oxyradicals. J Neurosci 17:4212-4222.
17. Hardy J (1997): Amyloid, the presenilins and Alzheimer's disease. Trends Neurosci 20:154-159.
18. Haug LS, Ostvold AC, Cowburn RF, Garlind A, Winblad B, Bogdanovich N, Walaas SI (1996): Decreased inositol (1,4,5)-trisphosphate receptor levels in Alzheimer's disease cerebral cortex: Selectivity of changes and possible correlation to pathological severity. Neurodegeneration 5:169-176.
19. 2+ mobilization is altered in fibroblasts from patients with Alzheimer disease. Proc Natl Acad Sci USA 91:534-538.
20. Khan AA, Soloski MJ, Sharp AH, Schilling G, Sabatini DM, Li SH, Ross CA, Snyder SH (1996): Lymphocyte apoptosis: Mediation by increased type 3 inositol 1,4,5-trisphosphate receptor. Science 273:503-507.
21. Kovacs DM, Fausett HJ, Page KJ, Kim T-W, Moir RD, Merriam DE, Hollister RD, Hallmark OG, Mancini R, Felsenstein KM, Hyman BT, Tanzi RE, Waseo W (1996): Alzheimer-associated presenilins 1 and 2: Neuronal expression in brain and localization to intracellular membranes in mammalian cells. Nature Med 2:224-229.
22. Kruman I, Bruce-Keller AJ, Bredesen DE, Waeg G, Mattson MP (1997): Evidence that 4-hydroxynonenal mediates oxidative stress-induced neuronal apoptosis. J Neurosci 17:5097-5108.
23. Lan JJ, Heilman CJ, Nash NR, Rees HD, Yi H, Counts SE, Levey AI (1997): Light and electron microscopic localization of presenilin-1 in primate brain. J Neurosci 17:1971-1980.
24. Lee MK, Slunt HH, Martin LJ, Thinakaran G, Kim G, Gandy SE, Seeger M, Koo E, Price DL, Sisodia SS (1996): Expression of presenilin 1 and 2 (PS1 and PS2) in human and murine tissues. J Neurosci 16:7513-7525.
25. Lehmann S, Chiesa R, Harris DA (1997): Evidence for a sixtransmembrane domain structure of presenilin 1. J Biol Chem 272:12047-12051.
26. Levitan D, Greenwald I (1995): Facilitation of lin-12-mediated signalling by sel-12, a Caenorhabditis elegans S182 Alzheimer's disease gene. Nature 377:351-354.
27. Levitan D, Doyle TG, Brousseau D, Lee MK, Thinakarin G, Slunt HH, Sisodia SS, Greenwald I (1996): Assessment of normal and mutant human presenilin function in Caenorhabditis elegans. Proc Natl Acad Sci USA 93:14940-14944.
28. Levy-Lahad E, Wijsman EM, Nemens E, Anderson L, Goddard KAB, Weber JL, Bird TD, Schellenberg GD (1995a): A familial Alzheimer's disease locus on chromosome 1. Science 269:970-973.
29. Levy-Lahad E, Wasco W, Poorkaj P, Romano DM, Oshima J, Pettingell WH, Yu C-E, 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 (1995b): Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 269:973-977.
30. L'Hernault SW, Arduengo PM (1992): Mutation of a putative sperm membrane protein in Caenorhabditis elegans prevents sperm differentiation but not its associated meiotic divisions. J Cell Biol 119:55-68.
31. Li X, Greenwald I (1996): Membrane topology of the C. elegans SEL-12 presenilin. Neuron 17:1015-1021.
32. Liguri G, Cecchi C, Latorraca S, Fieri A, Sorbi S, Degl'Innocenti D, Ramponi G (1996): Alteration of acylphosphatase levels in familial Alzheimer's disease fibroblasts with presenilin gene mutations. Neurosci Lett 210:153-156.
33. Loo D, Copani A, Pike C, Whittemore E, Walencewicz A, Cotman CW (1993): Apoptosis is induced by β-amyloid in cultured central nervous system neurons. Proc Natl Acad Sci USA 90:7951-7955.
34. 2+ homeostasis and cell death. J Neurosci 15:6239-6249.
35. Mark RJ, Lovell MA, Markesbery WR, Uchida K, Mattson MP (1997a): A role for 4-hydroxynonenal in disruption of ion homeostasis and neuronal death induced by amyloid β-peptide. J Neurochem 68:255-264.
36. Mark RJ, Pang Z, Geddes JW, Mattson MP (1997b): Amyloid β-peptide impairs glucose uptake in hippocampal and cortical neurons: Involvement of membrane lipid peroxidation. J Neurosci 17:1046-1054.
37. Mattson MP (1990): Antigenic changes similar to those seen in neurofibrillary tangles are elicited by glutamate and calcium influx in cultured hippocampal neurons. Neuron 4:105-117.
38. Mattson MP (1992): Calcium as sculptor and destroyer of neural circuitry. Exp Gerontol 27:29-49.
39. Mattson MP (1997a): Cellular actions of β-amyloid precursor protein, and its soluble and fibrillogenic peptide derivatives. Physiol Rev 77:1081-1132.
40. Mattson MP (1997b): Mother's legacy: Mitochondrial DNA mutations and Alzheimer's disease. Trends Neurosci 20:373-375.
41. Mattson MP, Cheng B, Davis D, Bryant K, Lieberburg I, Rydel RE (1992): β-amyloid peptides destabilize calcium homeostasis and render human cortical neurons vulnerable to excitotoxicity. J Neurosci 12:376-389.
42. Mattson MP, Cheng B, Culwell A, Esch F, Lieberburg I. Rydel RE (1993): Evidence for excitoprotective and intraneuronal calcium-regulating roles for secreted forms of β-amyloid precursor protein. Neuron 10:243-254.
43. Mattson MP, Furukawa K, Bruce AJ, Mark RJ, Blanc EM (1996): Calcium homeostasis and free radical metabolism as convergence points in the pathophysiology of dementia. In Wasco W, Tanzi RE (eds) "Molecular Mechanisms of Dementia." Humana Press, pp. 103-143.
44. Mercken M,Takahashi H, Honda T, Sato K,. Murayama M, Nakazato Y, Noguchi K, Imahori K, Takashima A (1996): Characterization of human presenilin 1 using N-terminal specific monoclonal antibodies: Evidence that Alzheimer mutations affect proteolytic processing. FEBS Lett 389:297-303.
45. Nixon RA, Saito KI, Grynspan F, Griffin WR, Katayama S, Honda T, Mohan PS, Shea TB, Beermann M (1994): Calcium-activated neutral proteinase (calpain) system in aging and Alzheimer's disease. Ann NY Acad Sci 747:77-91.
46. Page K, Hollister R, Tanzi RE, Hyman BT (1996): In situ hybridization of presenilin 1 mRNA in Alzheimer's disease and lesioned rat brain. Proc Natl Acad Sci USA 93:14020-14024.
47. Pedersen W, Guo Q, Hartman BK, Mattson MP (1997): NGF-independent reduction of choline acetyltransferase activity in PC 12 cells expressing mutant presenilin-1. J Biol Chem 272: 22397-22400.
48. Rogaev EI, Sherrington R, Rogaeva EA, 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 I, Cohen D, Lannfelt L, Fraser PE, Rommens JM, St. George-Hyslop PH (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.
49. Rogaev EI, Sherrington R, Wu C, Levesque G, Liang Y, Rogaeva EA, Ikeda M, Holman K, Lin C, Lukiw WJ, de Jong PJ, Fraser PE, Rommens JM, St George-Hyslop P (1997): Analysis of the 5′ sequence, genomic structure, and alternative splicing of the preenilin-1 gene associated with early onset Alzheimer's disease. Genomics 40:415-424.
50. St. George-Hyslop PH, Haines J, Rogaev E, Mortilla M, Vaula G, Pericak-Vance M, Foncin JF, Montesi M, Bruni A, Sorbi S, Rainero I, Pinessi L, Pollen D, Polnsky R, Nee L, Kennedy J, Macciardi F, Rogaeva E, Liang Y, Alexandrova N, Lukiw W, Schlumpf K, Tanzi R, Tsuda T, Farrer L, Cantu J-M, Duara R, Amaducci L, Bergamini L, Gusella J, Roses A, Crapper McLachlan D (1992): Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14. Nature Gen 2:330-334.
51. Scheuner D, Eckman C, Jensen M, Song X, Citron M, Suzuki N, Bird TD, 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): The amyloiod β protein deposited 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. Nature Med 2:864-870.
52. Selkoe DJ (1994): Cell biology of the amyloid beta-protein precursor and the mechanism ot Alzheimer's disease. Annu Rev Cell Biol 10:373-403.
53. 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 J-F, Bruni AC, Montesl MP, Sorbi S, Rainera I, Pinessi L, Nee L, Chumakov I, Pollen D, Brookes A, Sansequ P, Polinsky RJ, Wasco W, Da Silva HAR, Haines JL, Pericak-Vance MA, Tanzi RE, Roses AD, Fraser PE, Rommens JM, St. George-Hyslop PH (1995): Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 375:754-760.
54. Smale G, Nichols NR, Brady DR (1995): Evidence for apoptotic cell death in Alzheimer's disease. Exp Neurol 133:225-230.
55. Stein-Behrens B, Mattson MP, Chang I, Yeh M, Sapolsky RM (1994): Stress excacerbates neuron loss and cytoskeletal pathology in the hippocampus. J Neurosci 14:5373-5380.
56. Su JH, Anderson AJ, Cummings B, Cotman CW (1994): Immunocytochemical evidence for apoptosis in Alzheimer's disease. Neuroreport 5:2529-2533.
57. Suzuki T, Nishiyama K, Murayama S, Yamamoto A, Sato S, Kanazawa I, Sakaki Y (1996): Regional and cellular presenilin 1 gene expression in human and rat tissues. Biochem Biophys Res Commun 219:708-713.
58. Tanzi R, Kovacs DM, Kim TW, Moir RD, Guenette SY, Wasco W (1997): The presenilin genes and their role in early-onset familial Alzheimer's disease. Alzheimer's Dis Rev 1:90-98.
59. Thinakarin G, Borchelt DR, Lee MK, Slunt HH, Spitzer L, Kim G, Ratovitsky T, Davenport F, Norstedt C, Seeger M, Hardy J, Levey A, Gandy SE, Jenkins NA, Copeland NG, Price DL, Sisodia SA (1996): Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo. Neuron 17:181-190.
60. Thompson CB (1995): Apoptosis in the pathogenesis and treatment of disease. Science 267:1456-1462.
61. Uchthara T, el Hachimi HK, Duyckaerts C, Foncin JF, Fraser PE, Levesque L, St. George-Hyslop PH, Hauw JJ (1996): Widespread immunoreactivity of presenilin in neurons of normal and Alzheimer's disease brains: double-labeling immunohistochemical study. Acta Neuropathol 92:325-330.
62. 2+-binding protein ALG-2 and Alzheimer's disease gene ALG-3. Science 271:521-525.
63. Walter J, Capell A, Grunberg J, Pesold B, Schindzielorz A, Prior R, Podlinsy MB, Fraser P, St. George-Hyslop P, Selkoe DJ, Haass C (1996): The Alzheimer's disease-associated presenilins are differentially phosphorylated proteins located predominantly within the endoplasmic reticulum. Mol Med 2:673-691.
64. Weber LL, Leissring MA, Yang AJ, Glabe CG, Cribbs DH, LaFerla FM (1997): Presenilin-1 immunoreactivity is localized intracellularly in Alzheimer's disease brain, but not detected in amyloid plaques. Exp Neurol 143:37-44.
65. Weidemann A, Paliga K, Durrvang U, Czech C, Evin G, Masters CL, 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.
66. Williams R, Lendahl U, Lardelli M (1995): Complementary and combinatorial pattern of Notch gene family expression during early mouse development. Mech Dev 53:357-368.
67. Wolozin B, Iwasaki K, Vito P, Gunjei JK, Lacana E, Sunderland T, Zhao B, Kusiak JW, Wasco W, D'Adamio L (1996): Participation of presenilin 2 in apoptosis: Enhanced basal activity conferred by an Alzheimer mutation. Science 274:1710-1713.
68. Wong PC, Zheng H, Chen H, Becher MW, Sirinathsinghji DJS. Trumbauer ME, Chen HY, Price DL, Van der Ploeg LHT, Sisodia SS (1997): Presenilin 1 is required for Notch1 and Dll1 expression in the paraxial mesoderm. Nature 387:288-292.
69. Ynunkin S (1995): Evidence that Aβ 42 is the real culprit in Alzheimer's disease. Ann Neurol 37:287-288.