Presenilin-1 280Glu→ala mutation alters C-terminal APP processing yielding longer Aβ peptides: Implications for Alzheimer's disease

Molecular Medicine

Volumn 14, Issue 3-4, 2008, Pages 184-194

  Van Vickle, Gregory D ^a   Esh, Chera L ^a   Kokjohn, Tyler A ^a,b   Patton, R Lyle ^a   Kalback, Walter M ^a   Luehrs, Dean C ^a   Beach, Thomas G ^a   Newel, Amanda J ^a   Lopera, Francisco ^c   Ghetti, Bernardino ^d   Vidal, Ruben ^d   Castaño, Eduardo M ^e   Roher, Alex E ^a  

^a SUN HEALTH RESEARCH INSTITUTE   (United States)

^b MIDWESTERN UNIVERSITY   (United States)

^c UNIVERSIDAD DE ANTIOQUIA   (Colombia)

^d INDIANA UNIVERSITY   (United States)

^e FUNDACIÓN INSTITUTO LELOIR   (Argentina)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; AMINO ACID; AMYLOID BETA PROTEIN[1-42]; CT99 PROTEIN; GAMMA SECRETASE; GLUTAMINE; INSULIN; MEMBRANE METALLOENDOPEPTIDASE; PEPTIDE; PRESENILIN 1; UNCLASSIFIED DRUG;

ADULT; ALZHEIMER DISEASE; CARBOXY TERMINAL SEQUENCE; CELL MEMBRANE; CELL ORGANELLE; CONTROLLED STUDY; ENZYME DEGRADATION; GENE MUTATION; HUMAN; HUMAN TISSUE; HYDROPHOBICITY; MALE; MEMBRANE STRUCTURE; PATHOPHYSIOLOGY; PLAQUE FORMING CELL; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN STRUCTURE; REVIEW; STAINING; WHITE MATTER;

ADULT; AGED; ALZHEIMER DISEASE; AMYLOID BETA-PROTEIN; AMYLOID BETA-PROTEIN PRECURSOR; AUTOPSY; CHROMATOGRAPHY; HUMANS; MALE; MASS SPECTROMETRY; MIDDLE AGED; PEPTIDE FRAGMENTS; POINT MUTATION; PRESENILIN-1;

EID: 41649107275     PISSN: 10761551     EISSN: None     Source Type: Journal    
DOI: 10.2119/2007-00094.Van Vickle     Document Type: Review

References (69)

1. Brookmeyer R, Gray S, and Kawas C. (1998) Projections of Alzheimer's disease in the United States and the public health impact of delaying disease onset, Am. J. Public Health. 88:1337-42.
2. Gray EG, Paula-Barbosa M, and Roher A. (1987) Alzheimer's disease: paired helical filaments and cytomembranes, Neuropathol. Appl. Neurobiol. 13:91-110.
3. Goux WJ, Rodriguez S, and Sparkman DR. (1996) Characterization of the glycolipid associated with Alzheimer paired helical filaments. J. Neurochem. 67:723-33.
4. Goux WJ, Liu B, Shumburo AM, Parikh S, and Sparkman DR. (2001) A quantitative assessment of glycolipid and protein associated with paired helical filament preparations from Alzheimer's diseased brain. J. Alzheimers Dis. 3:455-66.
5. Kimberly WT, LaVoie MJ, Ostaszewski BL, Ye W, Wolfe MS, and Selkoe DJ. (2003) Gamma-secretase is a membrane protein complex comprised of presenilin, nicastrin, Aph-1, and Pen-2. Proc. Natl. Acad. Sci. U. S. A. 100:6382-7.
6. Wolfe MS. (2006) The gamma-secretase complex: membrane-embedded proteolytic ensemble. Biochemistry. 45:7931-9.
7. Hebert SS et al. (2004) Coordinated and widespread expression of gamma-secretase in vivo: evidence for size and molecular heterogeneity. Neurobiol. Dis. 17:260-72.
8. Kopan R and Goate A. (2000) A common enzyme connects notch signaling and Alzheimer's disease, Genes Dev. 14:2799-806.
9. Sato T et al. (2003) Potential link between amyloid beta-protein 42 and C-terminal fragment gamma 49-99 of beta-amyloid precursor protein. J. Biol. Chem. 278:24294-301.
10. De Strooper B. (2007) Loss-of-function presenilin mutations in Alzheimer disease. Talking Point on the role of presenilin mutations in Alzheimer disease, EMBO Rep. 8:141-6.
11. Hecimovic S, Wang J, Dolios G, Martinez M, Wang R, and Goate AM. (2004) Mutations in APP have independent effects on Abeta and CTFgamma generation. Neurobiol. Dis. 17:205-18.
12. Davis JA et al. (1998) An Alzheimer's disease-linked PS1 variant rescues the developmental abnormalities of PS1-deficient embryos. Neuron. 20:603-9.
13. Kumar-Singh S et al. (2006) Mean age-of-onset of familial Alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40. Hum. Mutat. 27:686-95.
14. Russo C et al. (2000) Presenilin-1 mutations in Alzheimer's disease. Nature. 405:531-2.
15. Miravalle L, Calero M, Takao M, Roher AE, Ghetti B, and Vidal R. (2005) Amino-terminally truncated Abeta peptide species are the main component of cotton wool plaques. Biochemistry. 44:10810-21.
16. Saura CA et al. (2005) Conditional inactivation of presenilin 1 prevents amyloid accumulation and temporarily rescues contextual and spatial working memory impairments in amyloid precursor protein transgenic mice. J. Neurosci. 25:6755-64.
17. Esh C et al. (2005) Altered APP processing in PDAPP (Val717→Phe) transgenic mice yields extended-length Abeta peptides. Biochemistry. 44:13807-19.
18. Van den Bergh G, Clerens S, Cnops L, Vandesande F, and Arckens L. (2003) Fluorescent two-dimensional difference gel electrophoresis and mass spectrometry identify age-related protein expression differences for the primary visual cortex of kitten and adult cat. J. Neurochem. 85:193-205.
19. Crook R et al. (1998) A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1. Nat. Med. 4:452-5.
20. Takao M et al. (2002) A novel mutation (G217D) in the Presenilin 1 gene (PSEN1) in a Japanese family: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum. Acta Neuropathol. 104:155-170.
21. Takao M et al. (2001) Ectopic white matter neurons, a developmental abnormality that may be caused by the PSEN1 S169L mutation in a case of familial AD with myoclonus and seizures. J. Neuropathol. Exp. Neurol. 60:1137-52.
22. Marcon G et al. (2004) Neuropathological and clinical phenotype of an Italian Alzheimer family with M239V mutation of presenilin 2 gene. J. Neuropathol. Exp. Neurol. 63:199-209.
23. Mann DM, Pickering-Brown SM, Takeuchi A, and Iwatsubo T. (2001) Amyloid angiopathy and variability in amyloid beta deposition is determined by mutation position in presenilin-1-linked Alzheimer's disease. Am. J. Pathol. 158:2165-75.
24. Walker ES, Martinez M, Brunkan AL, and Goate A. (2005) Presenilin 2 familial Alzheimer's disease mutations result in partial loss of function and dramatic changes in Abeta 42/40 ratios. J. Neurochem. 92:294-301.
25. Bentahir M et al. (2006) Presenilin clinical mutations can affect gamma-secretase activity by different mechanisms. J. Neurochem. 96:732-42.
26. Parks AL and Curtis D. (2007) Presenilin diversifies its portfolio. Trends Genet. 23:140-50.
27. Handler M, Yang X, and Shen J. (2000) Presenilin-1 regulates neuronal differentiation during neurogenesis. Development. 127:2593-606.
28. Nishimura M et al. (1999) Presenilin mutations associated with Alzheimer disease cause defective intracellular trafficking of beta-catenin, a component of the presenilin protein complex. Nat. Med. 5:1-169.
29. Zhang Z et al. (1998) Destabilization of beta-catenin by mutations in presenilin-1 potentiates neuronal apoptosis. Nature. 395:698-702.
30. Berezovska O, Xia MQ, and Hyman BT. (1998) Notch is expressed in adult brain, is coexpressed with presenilin-1, and is altered in Alzheimer disease. J. Neuropathol. Exp. Neurol. 57:738-45.
31. Miele L and Osborne B. (1999) Arbiter of differentiation and death: Notch signaling meets apoptosis, J. Cell Physiol. 181:393-409.
32. Berezovska O, Jack C, Deng A, Gastineau N, Rebeck GW, and Hyman BT. (2001) Notch1 and amyloid precursor protein are competitive substrates for presenilin1-dependent gammasecretase cleavage. J. Biol. Chem. 276:30018-23.
33. Lleo A, Berezovska O, Ramdya P, Fukumoto H, Raju S, Shah T, and Hyman BT. (2003) Notch1 competes with the amyloid precursor protein for gamma-secretase and down-regulates presenilin-1 gene expression. J. Biol. Chem. 278:47370-5.
34. Chang KA and Suh YH. (2005) Pathophysiological roles of amyloidogenic carboxy-terminal fragments of the beta-amyloid precursor protein in Alzheimer's disease. J. Pharmacol. Sci. 97:461-71.
35. Oster-Granite ML, McPhie DL, Greenan J, and Neve RL. (1996) Age-dependent neuronal and synaptic degeneration in mice transgenic for the C terminus of the amyloid precursor protein. J. Neurosci. 16:6732-41.
36. Song DK et al. (1998) Behavioral and neuropathologic changes induced by central injection of carboxyl-terminal fragment of beta-amyloid precursor protein in mice. J. Neurochem. 71:875-8.
37. Roher AE et al. (1993) Structural alterations in the peptide backbone of beta-amyloid core protein may account for its deposition and stability in Alzheimer's disease. J. Biol. Chem. 268:3072-83.
38. Roher AE, Lowenson JD, Clarke S, Woods AS, Cotter RJ, Gowing E, and Ball MJ. (1993) beta-Amyloid-(1-42) is a major component of cerebrovascular amyloid deposits: implications for the pathology of Alzheimer disease. Proc. Natl. Acad. Sci. U. S. A. 90:10836-40.
39. Kuo YM, Emmerling MR, Woods AS, Cotter RJ, and Roher AE. (1997) Isolation, chemical characterization, and quantitation of Abeta 3-pyroglutamyl peptide from neuritic plaques and vascular amyloid deposits. Biochem. Biophys. Res. Commun. 237:188-91.
40. Guntert A, Dobeli H, and Bohrmann B. (2006) High sensitivity analysis of amyloid-beta peptide composition in amyloid deposits from human and PS2APP mouse brain. Neuroscience. 143:461-75.
41. Gowing E, Roher AE, Woods AS, Cotter RJ, Chaney M, Little SP, and Ball MJ. (1994) Chemical characterization of A beta 17-42 peptide, a component of diffuse amyloid deposits of Alzheimer disease. J. Biol. Chem. 269:10987-90.
42. Kuo YM et al. (1996) Water-soluble Abeta (N-40, N-42) oligomers in normal and Alzheimer disease brains, J. Biol. Chem. 271:4077-81.
43. Roher AE et al. (1996) Morphology and toxicity of Abeta-(1-42) dimer derived from neuritic and vascular amyloid deposits of Alzheimer's disease. J. Biol. Chem. 271:20631-5.
44. Kuo YM et al. (2001) Comparative analysis of amyloid-beta chemical structure and amyloid plaque morphology of transgenic mouse and Alzheimer's disease brains. J. Biol. Chem. 276:12991-8.
45. Kalback W et al. (2002) APP transgenic mice Tg2576 accumulate Abeta peptides that are distinct from the chemically modified and insoluble peptides deposited in Alzheimer's disease senile plaques. Biochemistry. 41:922-8.
46. Roher AE et al. (2004) The human amyloid-beta precursor protein770 mutation V717F generates peptides longer than amyloid-beta-(40-42) and flocculent amyloid aggregates. J. Biol. Chem. 279:5829-36.
47. Van Vickle GD et al. (2007) TgCRND8 amyloid precursor protein transgenic mice exhibit an altered gamma-secretase processing and an aggressive, additive amyloid pathology subject to immunotherapeutic modulation. Biochemistry. 46:10317-27.
48. Qi-Takahara Y et al. (2005) Longer forms of amyloid beta protein: implications for the mechanism of intramembrane cleavage by gamma-secretase. J. Neurosci. 25:436-45.
49. Kuo YM et al. (2000) Elevated abeta42 in skeletal muscle of Alzheimer disease patients suggests peripheral alterations of AbetaPP metabolism. Am. J. Pathol. 156:797-805.
50. Kaether C and Haass C. (2004) A lipid boundary separates APP and secretases and limits amyloid beta-peptide generation. J. Cell Biol. 167:809-12.
51. Cordy JM, Hooper NM, and Turner AJ. (2006) The involvement of lipid rafts in Alzheimer's disease. Mol. Membr. Biol. 23:111-22.
52. Vetrivel KS et al. (2004) Association of gamma secretase with lipid rafts in post-Golgi and endosome membranes. J. Biol. Chem. 279:44945-54.
53. Ehehalt R, Keller P, Haass C, Thiele C, and Simons K. (2003) Amyloidogenic processing of the Alzheimer beta-amyloid precursor protein depends on lipid rafts. J. Cell Biol. 160:113-23.
54. Kawarabayashi T et al. (2004) Dimeric amyloid beta protein rapidly accumulates in lipid rafts followed by apolipoprotein E and phosphorylated tau accumulation in the Tg2576 mouse model of Alzheimer's disease. J. Neurosci. 24:3801-9.
55. Lai MT et al. (2006) A presenilin-independent aspartyl protease prefers the gamma-42 site cleavage. J. Neurochem. 96:118-25.
56. Marchesi VT. (2005) An alternative interpretation of the amyloid Abeta hypothesis with regard to the pathogenesis of Alzheimer's disease. Proc. Natl. Acad. Sci. U. S. A. 102:9093-8.
57. Curran AR and Engelman DM. (2003) Sequence motifs, polar interactions and conformational changes in helical membrane proteins. Curr. Opin. Struct. Biol. 13:412-7.
58. Wood WG, Schroeder F, Igbavboa U, Avdulov NA, and Chochina SV. (2002) Brain membrane cholesterol domains, aging and amyloid beta-peptides. Neurobiol. Aging. 23:685-94.
59. Yehuda S, Rabinovitz S, and Mostofsky DI. (2005) Essential fatty acids and the brain: from infancy to aging. Neurobiol. Aging. 26 Suppl 1:98-102.
60. Yu WH et al. (2005) Macroautophagy-a novel Beta-amyloid peptide-generating pathway activated in Alzheimer's disease. J. Cell Biol. 171:87-98.
61. Bredesen DE. (2007) Key note lecture: toward a mechanistic taxonomy for cell death programs. Stroke. 38:652-660.
62. Tsujimoto Y and Shimizu S. (2005) Another way to die: autophagic programmed cell death. Cell Death. Differ. 12 Suppl 2:1528-34.
63. Iwata N, et al. (2001) Metabolic regulation of brain Abeta by neprilysin. Science. 292:1550-2.
64. Farris W et al. (2003) Insulin-degrading enzyme regulates the levels of insulin, amyloid beta-protein, and the beta-amyloid precursor protein intracellular domain in vivo. Proc. Natl. Acad. Sci. U. S. A. 100:4162-7.
65. Miller BC et al. (2003) Amyloid-beta peptide levels in brain are inversely correlated with insulysin activity levels in vivo. Proc. Natl. Acad. Sci. U. S. A. 100:6221-6.
66. Oefner C, D'Arcy A, Hennig M, Winkler FK, and Dale GE. (2000) Structure of human neutral endopeptidase (Neprilysin) complexed with phosphoramidon. J. Mol. Biol. 296:341-9.
67. Shen Y, Joachimiak A, Rosner MR, and Tang WJ. (2006) Structures of human insulin-degrading enzyme reveal a new substrate recognition mechanism. Nature. 443:870-4.
68. Morelli L et al. (2003) Differential degradation of amyloid beta genetic variants associated with hereditary dementia or stroke by insulin-degrading enzyme. J. Biol. Chem. 278:23221-6.
69. Morelli L et al. (2005) Insulin-degrading enzyme degrades amyloid peptides associated with British and Danish familial dementia. Biochem. Biophys. Res. Commun. 332:808-16.