Expression of truncated presenilin 2 splice variant in Alzheimer's disease, bipolar disorder, and schizophrenia brain cortex

Molecular Brain Research

Volumn 127, Issue 1-2, 2004, Pages 128-135

  Smith, Margaret J ^a   Sharples, Robyn A ^a   Evin, Geneviève ^a   McLean, Catriona A ^a   Dean, Brian ^b   Pavey, Geoff ^b   Fantino, Emmanuelle ^c   Cotton, Richard G H ^c   Imaizumi, Kazunori ^d   Masters, Colin L ^a   Cappai, Roberto ^a   Culvenor, Janetta G ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b FLOREY INSTITUTE OF NEUROSCIENCE AND MENTAL HEALTH   (Australia)

^c ST VINCENT S HOSPITAL   (Australia)

^d NARA INSTITUTE OF SCIENCE AND TECHNOLOGY   (Japan)

Author keywords

AD; Alzheimer's disease; BCA; bicinchoninic acid; Bipolar disorder; bipolar disorder; BP; Degenerative disease: Alzheimer's miscellaneous; Disorders of the nervous system; FTD; Human brain; Presenilin 2; Schizophrenia; Splice variant

Indexed keywords

NEUROLEPTIC AGENT; PRESENILIN 2; PROTEIN ANTIBODY;

ADULT; AGE; AGED; ALZHEIMER DISEASE; AMINO TERMINAL SEQUENCE; ARTICLE; BIPOLAR DISORDER; BRAIN TISSUE; CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSIS RELATED GROUP; FRONTAL CORTEX; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; HUMAN TISSUE; NERVE DEGENERATION; NEUROBLASTOMA CELL; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; PROTEIN PROCESSING; PROTEIN VARIANT; SCHIZOPHRENIA;

ADULT; AGED; AGED, 80 AND OVER; ALTERNATIVE SPLICING; ALZHEIMER DISEASE; BIPOLAR DISORDER; BLOTTING, WESTERN; CELL LINE, TUMOR; CEREBRAL CORTEX; CLONING, MOLECULAR; DOWN SYNDROME; FEMALE; HUMANS; IMMUNOPRECIPITATION; MALE; MEMBRANE PROTEINS; MIDDLE AGED; NEUROBLASTOMA; POSTMORTEM CHANGES; PRESENILIN-2; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SCHIZOPHRENIA; VARIATION (GENETICS);

EID: 4043156263     PISSN: 0169328X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.molbrainres.2004.05.019     Document Type: Article

References (32)

1. Amtul Z., Lewis P.A., Piper S., Crook R., Baker M., Findlay K., Singleton A., Hogg M., Younkin L., Younkin S.G., Hardy J., Hutton M., Boeve B.F., Tang-Wai D., Golde T.E. A presenilin 1 mutation associated with familial frontotemporal dementia inhibits γ-secretase cleavage of APP and Notch. Neurobiol. Dis. 9:2002;269-273
2. Blencowe B.J. Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases. TIBS. 25:2000;106-110
3. Brown M.S., Ye J., Rawson R.B., Goldstein J.L. Regulated intramembrane proteolysis: a control mechanism conserved from bacteria to humans. Cell. 100:2000;391-398
4. Culvenor J.G., Evin G., Cooney M.A., Wardan H., Sharples R.A., Maher F., Reed G., Diehlmann A., Weidemann A., Beyreuther K., Masters C.L. Presenilin 2 expression in neuronal cells: induction during differentiation of embryonic carcinoma cells. Exp. Cell Res. 255:2000;192-206
5. Dermaut B., Kumar-Singh S., Engelborghs S., Theuns J., Rademakers R., Saerens J., Pickut B.A., Peeters K., Van Den Broeck M., Vennekens K., Claes S., Cruts M., Cras P., Martin J.J., Van Broeckhoven C., De Deyn P.P. A novel presenilin 1 mutation associated with Pick's disease not beta-amyloid plaques. Ann. Neurol. 55:2004;617-626
6. Evin G., Smith M.J., Tziotis A., McLean C., Canterford L., Sharples R.A., Cappai R., Weidemann A., Beyreuther K., Cotton R.G.H., Masters C.L., Culvenor J.G. Alternative transcripts of presenilin-1 associated with frontotemporal dementia. NeuroReport. 13:2002;917-921
7. Foster P. Neuroleptic equivalence. J. Pharmacol. 243:1989;431-432
8. Herreman A., Hartmann D., Annaert W., Saftig P., Craessaerts K., Serneels L., Umans L., Schrijvers V., Checler F., Vanderstichele H., Baekelandt V., Dressel R., Cupers P., Huylebroeck D., Zwijsen A., Van Leuven F., De Strooper B. Presenilin 2 deficiency causes a mild pulmonary phenotype and no changes in amyloid precursor protein processing but enhances the embryonic lethal phenotype of presenilin 1 deficiency. Proc. Natl. Acad. Sci. U. S. A. 96:1999;11872-11877
9. Higaki J., Murphy G.M., Cordell B. Inhibition of β-amyloid formation by haloperidol: a possible mechanism for reduced frequency of Alzheimer's disease pathology in schizophrenia. J. Neurochem. 68:1997;333-336
10. Keks N.A., Hill C., Opeskin K., Copolov D.L., Dean B. Psychiatric diagnosis after death: the problems of accurate diagnosis from case history review and relative interviews. Dean B., Kleinman J.E., Hyde T.M. Using CNS Tissue in Psychiatric Research: A Practical Guide. 1999;19-38 Harwood Academic Publishers, Sydney
11. Kingsbury A.E., Foster O.J., Nisbet A.P., Cairns N., Bray L., Eve D.J., Lees A.J., Marsden C.D. Tissue pH as an indicator of mRNA preservation in human post-mortem brain. Mol. Brain Res. 28:1995;311-318
12. Lee M.K., Slunt H.H., Martin L.J., Thinakaran G., Kim G., Gandy S.E., Seeger M., Koo E., Price D.L., Sisodia S.S. Expression of presenilin 1 and 2 (PS1 and PS2) in human and murine tissues. J. Neurosci. 16:1996;7513-7525
13. Lee H.J., Jung K.M., Huang Y.Z., Bennett L.B, Lee J.S., Mei L., Kim T.W. Presenilin-dependent gamma-secretase-like intramembrane cleavage of ErbB4. J. Biol. Chem. 277:2002;6318-6323
14. Levy-Lahad E., Poorkaj P., Wang K., Fu Y.H., Oshima J., Mulligan J., Schellenberg G.D. Genomic structure and expression of STM2, the chromosome 1 familial Alzheimer disease gene. Genomics. 34:1996;198-204
15. Lukiw W.J., Gordon W.C., Rogaev E.I., Thompson H., Bazan N.G. Presenilin-2 (PS2) expression up-regulation in a model of retinopathy of prematurity and pathoangiogenesis. NeuroReport. 12:2001;53-57
16. Manabe T., Katayama T., Sato N., Gomi F., Hitomi J., Yanagita T., Kudo T., Honda A., Mori Y., Matsuzaki S., Imaizumi K., Mayeda A., Tohyama M. Induced HMGA1a expression causes aberrant splicing of presenilin-2 pre-mRNA in sporadic Alzheimer's disease. Cell Death Diff. 10:2003;698-708
17. Marambaud P., Shioi J., Serban G., Georgakopoulos A., Sarner S., Nagy V., Baki L., Wen P., Efthimiopoulos S., Shao Z., Wisniewski T., Robakis N.K. A presenilin-1/gamma-secretase cleavage releases the E-cadherin intracellular domain and regulates disassembly of adherens junctions. EMBO J. 21:2002;1948-1956
18. Mirra S.S., Heyman A., McKeel D., Sumi S.M., Crain B.J., Brownlee L.M., Vogel F.S., Hughes J.P., van Belle G., Berg L. The consortium to establish a registry for Alzheimer's disease (CERAD): Part II. Standardization of the neuropathologic assessment of Alzheimer's disease. Neurology. 41:1991;479-486
19. Mohuczy D., Qian K., Phillips M.I. Presenilins in the heart: presenilin-2 expression is increased by low glucose and by hypoxia in cardiac cells. Regul. Pept. 110:2002;1-7
20. Pearlson G.D. Neurobiology of schizophrenia. Ann. Neurol. 48:2000;556-566
21. Pennypacker K.R., Fuldner R., Xu R., Hernandez H., Dawbarn D., Mehta N., Perez-Tur J., Baker M., Hutton M. Cloning and characterization of the presenilin-2 gene promoter. Mol. Brain Res. 56:1998;57-65
22. Perez-Tur J., Froelich S., Prihar G., Crook R., Baker M., Duff K., Wragg M., Busfield F., Lendon C., Clark R.F., Rogues P., Fuldner R.A., Johnston J., Cowburn R., Fosell C., Axelman K., Lilius L., Houlden H., Karran E., Roberts G.W., Rossor M., Adams M.D., Hardy J., Goates A., Lannfelt L., Hutton M. A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene. NeuroReport. 7:1995;297-301
23. Prihar G., Fuldner R.A., Perez-Tur J., Lincoln S., Duff K., Crook R., Hardy J., Philips C.A., Venter C., Talbot C., Clear R.F., Goate A., Li J., Potter H., Karran E., Roberts G.W., Hutton M., Adams M.D. Structure and alternative splicing of the presenilin-2 gene. NeuroReport. 7:1996;1680-1684
24. Raux G., Gantier R., Thomas-Anterion C., Boulliat J., Verpillat P., Hannequin D., Brice A., Frebourg T., Campion D. Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation. Neurology. 55:2000;157-1578
25. Sato N., Hori O., Yamaguchi A., Lambert J.-C., Chartier-Harlin M.-C., Robinson P.A., Delacourte A., Schmidt A.M., Furuyama T., Imaizumi K., Tohyama M., Takagi T.A. A novel presenilin-2 splice variant in human Alzheimer's disease brain tissue. J. Neurochem. 72:1999;2498-2505
26. Sato N., Imaizumi K., Manabe T., Taniguchi M., Hitomi J., Katayama T., Yoneda T., Morihara T., Yasuda Y., Takagi T., Kudo T., Tsuda T., Itoyama Y., Makifuchi T., Fraser P.E., St George-Hyslop P., Tohyama M. Increased production of βamyloid and vulnerability to endoplasmic reticulum stress by an aberrant spliced form of presenilin 2. J. Biol. Chem. 276:2001;2108-2114
27. Saura C.A., Choi S.-Y., Beglopoulos V., Malkani S., Zhang D., Rao B.S.S., Chattarji S., Kelleher R.J. III, Kandel E.R., Duff K., Kirkwood A., Shen J. Loss of presenilin function causes impairments of memory and synaptic plasticity followed by age-dependent neurodegeneration. Neuron. 42:2004;32-36
28. Soriano S., Kang D.E., Fu M., Pestell R., Chevallier N., Zheng H., Koo E.H. Presenilin 1 negatively regulates β-catenin/T cell factor/lymphoid enhancer factor-1 signaling independent of β-amyloid precursor and Notch processing. J. Cell Biol. 152:2001;785-794
29. Takahashi N., Kariya S., Hirano M., Ueno S. Two novel spliced presenilin 2 transcripts in human lymphocyte with oxidant stress and brain. Mol. Cell. Biochem. 252:2003;279-283
30. Tysoe C., Whittaker J., Xuereb J., Cairns N.J., Cruts M., Van Broeckhoven C., Wilcock G., Rubinstein D.C. A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease. Am. J. Hum. Genet. 62:1998;70-76
31. Vito P., Ghayur T., D'Adamio L. Generation of anti-apoptotic presenilin-2 polypeptides by alternative transcription, proteolysis, and caspase-3 cleavage. J. Biol. Chem. 272:1997;28315-28320
32. Weidemann A., Paliga K., Dürrrwang U., Czech C., Evin G., Masters C.L., Beyreuther K. Formation of stable complexes between two Alzheimer's disease gene products: presenilin-2 and β-amyloid precursor protein. Nat. Med. 3:1997;328-332