Familial Alzheimer's disease mutations in presenilins: Effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes

Journal of Alzheimer's Disease

Volumn 21, Issue 3, 2010, Pages 781-793

  Nelson, Omar ^a   Supnet, Charlene ^a   Liu, Huarui ^a   Bezprozvanny, Ilya ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

Alzheimer's disease; amyloid ; calcium; cotton wool plaques; endoplasmic reticulum; lymphoblasts; presenilins; spastic paraparesis

Indexed keywords

AMYLOID BETA PROTEIN; GAMMA SECRETASE; PRESENILIN;

ALZHEIMER DISEASE; ANIMAL CELL; ARTICLE; CALCIUM CELL LEVEL; CALCIUM HOMEOSTASIS; CALCIUM SIGNALING; CONTROLLED STUDY; CORRELATION ANALYSIS; EMBRYO; ENDOPLASMIC RETICULUM; ENZYME ACTIVITY; EXON; FAMILIAL DISEASE; FIBROBLAST; GENE MUTATION; HUMAN; HUMAN CELL; KNOCKOUT MOUSE; LYMPHOBLAST; MOUSE; NONHUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL;

EID: 77954129392     PISSN: 13872877     EISSN: None     Source Type: Journal    
DOI: 10.3233/JAD-2010-100159     Document Type: Article

References (46)

1. Hardy J (2009) The amyloid hypothesis for Alzheimer's disease: A critical reappraisal. J Neurochem 110, 11291134.
2. Hardy J, Selkoe DJ (2002) The amyloid hypothesis of Alzheimer's disease: Progress and problems on the road to therapeutics. Science 297, 353356. (Pubitemid 34790756)
3. Small SA, Duff K (2008) Linking Abeta and tau in lateonset Alzheimer's disease: A dual pathway hypothesis. Neuron 60, 534542.
4. Bertram L, Tanzi RE (2008) Thirty years of Alzheimer's disease genetics: The implications of systematic metaanalyses. Nat Rev Neurosci 9, 768778.
5. Bergmans BA, De Strooper B (2010) gammasecretases: from cell biology to therapeutic strategies. Lancet Neurol 9, 215226.
6. HuttonM, Lendon CL, Rizzu P, BakerM, Froelich S, Houlden H, PickeringBrown S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln S, Dickson D, Davies P, Petersen RC, Stevens M, De Graaff E, Wauters E, Van Baren J, Hillebrand M, Joosse M, Kwon JM, Nowotny P, Che LK, Norton J, Morris JC, Reed LA, Trojanowski J, Basun H, Lannfelt L, Neystat M, Fahn S, Dark F, Tannenberg T, Dodd PR, Hayward N, Kwok JB, Schofield PR, Andreadis A, Snowden J, Craufurd D, Neary D, Owen F, Oostra BA, Hardy J, Goate A, Van Swieten J, Mann D, Lynch T, Heutink P (1998) Association of missense and 5'splicesite mutations in tau with the inherited dementia FTDP17. Nature 393, 702705. (Pubitemid 28289662)
7. CrutsM,Van Broeckhoven C (2008) Loss of progranulin function in frontotemporal lobar degeneration. Trends Genet 24, 186194.
8. Laudon H, Hansson EM,Melen K, Bergman A, Farmery MR, Winblad B, Lendahl U, von Heijne G, Naslund J (2005) A ninetransmembrane domain topology for presenilin 1. J Biol Chem 280, 3535235360.
9. Spasic D, Tolia A, Dillen K, Baert V, De Strooper B, Vrijens S, Annaert W (2006) Presenilin1 maintains a ninetransmembrane topology throughout the secretory pathway. J Biol Chem 281, 2656926577. (Pubitemid 44401866)
10. AnnaertWG, Levesque L, Craessaerts K,Dierinck I, Snellings G, Westaway D, GeorgeHyslop PS, Cordell B, Fraser P, De Strooper B (1999) Presenilin 1 controls gammasecretase processing of amyloid precursor protein in pregolgi compartments of hippocampal neurons. J Cell Biol 147, 277294. (Pubitemid 29496338)
11. De Strooper B, Saftig P, Craessaerts K, Vanderstichele H, Guhde G, AnnaertW, Von Figura K, Van Leuven F (1998) Deficiency of presenilin1 inhibits the normal cleavage of amyloid precursor protein. Nature 391, 387390. (Pubitemid 28093512)
12. Wolfe MS, Xia W, Ostaszewski BL, Diehl TS, Kimberly WT, SelkoeDJ (1999) Two transmembrane aspartates in presenilin1 required for presenilin endoproteolysis and gammasecretase activity. Nature 398, 513517. (Pubitemid 129523589)
13. Larner AJ, Doran M (2006) Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin1 gene. J Neurol 253, 139158. (Pubitemid 43255883)
14. Karlstrom H, Brooks WS, Kwok JB, Broe GA, Kril JJ, McCann H, Halliday GM, Schofield PR (2008) Variable phenotype of Alzheimer's disease with spastic paraparesis. J Neurochem 104, 573583.
15. Tabira T,Chui DH,Nakayama H,Kuroda S, ShibuyaM(2002) Alzheimer's disease with spastic paresis and cotton wool type plaques. J Neurosci Res 70, 367372. (Pubitemid 35222375)
16. Houlden H, Baker M,McGowan E, Lewis P, Hutton M, Crook R,Wood NW, KumarSingh S, Geddes J, Swash M, Scaravilli F, Holton JL, Lashley T, Tomita T, Hashimoto T, Verkkoniemi A, Kalimo H, Somer M, Paetau A, Martin JJ, Van Broeckhoven C, Golde T, Hardy J, HaltiaM, Revesz T (2000) Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS1 mutations that lead to exceptionally high amyloidbeta concentrations. Ann Neurol 48, 806808.
17. Khachaturian ZS (1989) Calcium, membranes, aging, and Alzheimer's disease. Introduction and overview. AnnN Y Acad Sci 568, 14.
18. Bezprozvanny I, Mattson MP (2008) Neuronal calcium mishandling and the pathogenesis of Alzheimer's disease. Trends Neurosci 31, 454463.
19. Smith IF, Green KN, LaFerla FM (2005) Calcium dysregulation in Alzheimer's disease: Recent advances gained from genetically modified animals. Cell Calcium 38, 427437.
20. Ito E, Oka K, Etcheberrigaray R, Nelson TJ, McPhie DL, TofelGrehl B, Gibson GE, Alkon DL (1994) Internal Ca2+ mobilization is altered in fibroblasts from patients with Alzheimer disease. Proc Natl Acad Sci U S A 91, 534538. (Pubitemid 2042532)
21. Tu H, Nelson O, Bezprozvanny A,Wang Z, Lee SF, Hao YH, Serneels L, De Strooper B, Yu G, Bezprozvanny I (2006) Presenilins form ER calcium leak channels, a function disrupted by mutations linked to familial Alzheimer's disease. Cell 126, 981993. (Pubitemid 44310781)
22. Nelson O, Tu H, Lei T, Bentahir M, De Strooper B, Bezprozvanny I (2007) Familial Alzheimer diseaselinked mutations specifically disrupt Ca2+ leak function of presenilin 1. J Clin Invest 117, 12301239. (Pubitemid 46718411)
23. Grynkiewicz G, Poenie M, Tsien RY (1985) A new generation of Ca2+ indicators with greatly improved fluorescence properties. J Biol Chem 260, 34403450. (Pubitemid 15114340)
24. Kwok JB, Halliday GM, Brooks WS, Dolios G, Laudon H, Murayama O, Hallupp M, Badenhop RF, Vickers J, Wang R, Naslund J, Takashima A, Gandy SE, Schofield PR (2003) Presenilin1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with noncored plaques and no neuritic dystrophy. J Biol Chem 278, 67486754. (Pubitemid 36800662)
25. Herreman A, Serneels L, AnnaertW, Collen D, Schoonjans L, De Strooper B (2000) Total inactivation of gammasecretase activity in presenilindeficient embryonic stem cells. Nat Cell Biol 2, 461462.
26. Bentahir M, Nyabi O, Verhamme J, Tolia A, Horre K, Wiltfang J, Esselmann H, De Strooper B (2006) Presenilin clinical mutations can affect gammasecretase activity by different mechanisms. J Neurochem 96, 732742.
27. Steiner H, Revesz T, Neumann M, Romig H, Grim MG, Pesold B, Kretzschmar HA, Hardy J, Holton JL, Baumeister R, Houlden H, Haass C (2001) A pathogenic presenilin1 deletion causes aberrant Abeta 42 production in the absence of congophilic amyloid plaques. J Biol Chem 276, 72337239. (Pubitemid 37392027)
28. Crook R, Verkkoniemi A, PerezTur J, Mehta N, Baker M, Houlden H, Farrer M, Hutton M, Lincoln S, Hardy J, Gwinn K, Somer M, Paetau A, Kalimo H, Ylikoski R, Poyhonen M, Kucera S, Haltia M (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, 452455. (Pubitemid 28212762)
29. Brooks WS, Kwok JB, Kril JJ, Broe GA, Blumbergs PC, Tannenberg AE, Lamont PJ, Hedges P, Schofield PR (2003) Alzheimer's disease with spastic paraparesis and 'cotton wool' plaques: Two pedigrees with PS1 exon 9 deletions. Brain 126, 783791. (Pubitemid 36372979)
30. Jacquemont ML, Campion D, Hahn V, Tallaksen C, Frebourg T, Brice A, Durr A (2002) Spastic paraparesis and atypical dementia caused by PSEN1mutation (P264L), responsible for Alzheimer's disease. J Med Genet 39, E2.
31. Haleem K, Lippa CF, Smith TW, Kowa H, Wu J, Iwatsubo T (2007) Presenilin1 C410Y Alzheimer disease plaques contain synaptic proteins. Am J Alzheimers Dis Other Demen 22, 137144. (Pubitemid 46684903)
32. Ataka S, Tomiyama T, Takuma H, Yamashita T, Shimada H, Tsutada T, Kawabata K, Mori H, Miki T (2004) A novel presenilin1 mutation (Leu85Pro) in earlyonset Alzheimer disease with spastic paraparesis. Arch Neurol 61, 17731776. (Pubitemid 39463435)
33. Takao M, Ghetti B, Hayakawa I, Ikeda E, Fukuuchi Y, Miravalle L, Piccardo P,Murrell JR, Glazier BS, KotoA (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, 155170. (Pubitemid 36075374)
34. O'Riordan S, McMonagle P, Janssen JC, Fox NC, Farrell M, Collinge J, Rossor MN, Hutchinson M (2002) Presenilin1 mutation (E280G), spastic paraparesis, and cranialMRIwhitematter abnormalities. Neurology 59, 11081110.
35. Rogaeva E, Bergeron C, Sato C, Moliaka I, Kawarai T, Toulina A, Song YQ, Kolesnikova T, Orlacchio A, Bernardi G, St GeorgeHyslop PH (2003) PS1 Alzheimer's disease family with spastic paraplegia: The search for a gene modifier. Neurology 61, 10051007. (Pubitemid 37248667)
36. Dumanchin C, Tournier I,Martin C, Didic M, Belliard S, Carlander B, Rouhart F, Duyckaerts C, Pellissier JF, Latouche JB, Hannequin D, Frebourg T, TosiM, Campion D (2006) Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques. Hum Mutat 27, 1063.
37. Yasuda M, Maeda S, Kawamata T, Tamaoka A, Yamamoto Y, Kuroda S, Maeda K, Tanaka C (2000) Novel presenilin1 mutation with widespread cortical amyloid deposition but limited cerebral amyloid angiopathy. J Neurol Neurosurg Psychiatry 68, 220223. (Pubitemid 30245849)
38. Shrimpton AE, Schelper RL, Linke RP, Hardy J, Crook R, Dickson DW, Ishizawa T, Davis RL (2007) A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis. Neuropathology 27, 228232. (Pubitemid 46800490)
39. Yagi T, Giallourakis C,Mohanty S, Scheidig C, Shen J, Zheng H, Xavier RJ, Shaw AC (2008) Defective signal transduction in B lymphocytes lacking presenilin proteins. Proc Natl Acad Sci U S A 105, 979984. (Pubitemid 351282067)
40. Borden LA, Maxfield FR, Goldman JE, Shelanski ML (1992) Resting [Ca2+]i and [Ca2+]i transients are similar in fibroblasts from normal and Alzheimer's donors. Neurobiol Aging 13, 3338.
41. Cruts M, Van Duijn CM, Backhovens H, Van Den Broeck M, Wehnert A, Serneels S, Sherrington R, Hutton M, Hardy J, St GeorgeHyslop PH, Hofman A, Van Broeckhoven C (1998) Estimation of the genetic contribution of presenilin1 and 2 mutations in a populationbased study of presenile Alzheimer disease. Hum Mol Genet 7, 4351. (Pubitemid 28040736)
42. Boeve BF, Baker M, Dickson DW, Parisi JE, Giannini C, Josephs KA, Hutton M, PickeringBrown SM, Rademakers R, TangWai D, Jack CR, Jr., Kantarci K, Shiung MM, Golde T, Smith GE, Geda YE, Knopman DS, Petersen RC (2006) Frontotemporal dementia and parkinsonism associated with the IVS1+1G >A mutation in progranulin: A clinicopathologic study. Brain 129, 31033114. (Pubitemid 44684529)
43. Cruts M, Van Broeckhoven C (1998) Presenilin mutations in Alzheimer's disease. Hum Mutat 11, 183190. (Pubitemid 28132873)
44. Larner AJ, du Plessis DG (2003) Earlyonset Alzheimer's disease with presenilin1 M139V mutation: Clinical, neuropsychological and neuropathological study. Eur J Neurol 10, 319323.
45. Halliday GM, Song YJ, Lepar G, Brooks WS, Kwok JB, Kersaitis C, Gregory G, Shepherd CE, Rahimi F, Schofield PR, Kril JJ (2005) Pick bodies in a family with presenilin1 Alzheimer's disease. Ann Neurol 57, 139143. (Pubitemid 40053327)
46. Le TV, Crook R, Hardy J, Dickson DW (2001) Cotton wool plaques in nonfamilial lateonset Alzheimer disease. J Neuropathol Exp Neurol 60, 10511061. (Pubitemid 33021439)