A Polymorphism in CALHM1 Influences Ca2+ Homeostasis, Aβ Levels, and Alzheimer's Disease Risk

Cell

Volumn 133, Issue 7, 2008, Pages 1149-1161

  Dreses Werringloer, Ute ^a   Lambert, Jean Charles ^b   Vingtdeux, Valérie ^a   Zhao, Haitian ^a   Vais, Horia ^c   Siebert, Adam ^c   Jain, Ankit ^c   Koppel, Jeremy ^a   Rovelet Lecrux, Anne ^b   Hannequin, Didier ^b   Pasquier, Florence ^d   Galimberti, Daniela ^e   Scarpini, Elio ^e   Mann, David ^f   Lendon, Corinne ^g   Campion, Dominique ^b   Amouyel, Philippe ^b   Davies, Peter ^a,h   Foskett, J Kevin ^c   Campagne, Fabien ⁱ   Marambaud, Philippe ^a,h   more..

^a FEINSTEIN INSTITUTE FOR MEDICAL RESEARCH   (United States)

^b INSERM   (France)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d LILLE UNIVERSITY HOSPITAL   (France)

^e FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^f UNIVERSITY OF MANCHESTER   (United Kingdom)

^g QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^h ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

ⁱ WEILL CORNELL MEDICAL COLLEGE   (United States)

Author keywords

HUMDISEASE; PROTEINS; SIGNALING

Indexed keywords

AMYLOID BETA PROTEIN; CALCIUM HOMEOSTASIS MODULATOR 1; GLYCOPROTEIN; N METHYL DEXTRO ASPARTIC ACID RECEPTOR;

ALLELE; ALZHEIMER DISEASE; AMINO ACID SEQUENCE; ARTICLE; CALCIUM CONDUCTANCE; CASE CONTROL STUDY; CELL MEMBRANE; GENETIC POLYMORPHISM; HOMEOSTASIS; HUMAN; MEMBRANE POTENTIAL; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

EID: 45749130981     PISSN: 00928674     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cell.2008.05.048     Document Type: Article

References (35)

1. Berridge M.J., Bootman M.D., and Roderick H.L. Calcium signalling: Dynamics, homeostasis and remodelling. Nat. Rev. Mol. Cell Biol. 4 (2003) 517-529
2. Bertram L., Blacker D., Mullin K., Keeney D., Jones J., Basu S., Yhu S., McInnis M.G., Go R.C., Vekrellis K., et al. Evidence for genetic linkage of Alzheimer's disease to chromosome 10q. Science 290 (2000) 2302-2303
3. Bertram L., Hsiao M., Lange C., Blacker D., and Tanzi R.E. Single-nucleotide polymorphism rs498055 on chromosome 10q24 is not associated with Alzheimer disease in two independent family samples. Am. J. Hum. Genet. 79 (2006) 180-183
4. Bertram L., McQueen M.B., Mullin K., Blacker D., and Tanzi R.E. Systematic meta-analyses of Alzheimer disease genetic association studies: The AlzGene database. Nat. Genet. 39 (2007) 17-23
5. Blacker D., Bertram L., Saunders A.J., Moscarillo T.J., Albert M.S., Wiener H., Perry R.T., Collins J.S., Harrell L.E., Go R.C., et al. Results of a high-resolution genome screen of 437 Alzheimer's disease families. Hum. Mol. Genet. 12 (2003) 23-32
6. Braak H., and Braak E. Neuropathological stageing of Alzheimer-related changes. Acta Neuropathol. (Berl.) 82 (1991) 239-259
7. Breslow N.E., Day N.E., Halvorsen K.T., Prentice R.L., and Sabai C. Estimation of multiple relative risk functions in matched case-control studies. Am. J. Epidemiol. 108 (1978) 299-307
8. Campagne F., and Skrabanek L. Mining expressed sequence tags identifies cancer markers of clinical interest. BMC Bioinformatics 7 (2006) 481
9. Conrad C., Vianna C., Freeman M., and Davies P. A polymorphic gene nested within an intron of the tau gene: Implications for Alzheimer's disease. Proc. Natl. Acad. Sci. USA 99 (2002) 7751-7756
10. de Leon M.J., Mosconi L., Blennow K., DeSanti S., Zinkowski R., Mehta P.D., Pratico D., Tsui W., Saint Louis L.A., Sobanska L., et al. Imaging and CSF studies in the preclinical diagnosis of Alzheimer's disease. Ann. N Y Acad. Sci. 1097 (2007) 114-145
11. Dingledine R., Borges K., Bowie D., and Traynelis S.F. The glutamate receptor ion channels. Pharmacol. Rev. 51 (1999) 7-61
12. Ertekin-Taner N., Graff-Radford N., Younkin L.H., Eckman C., Baker M., Adamson J., Ronald J., Blangero J., Hutton M., and Younkin S.G. Linkage of plasma Abeta42 to a quantitative locus on chromosome 10 in late-onset Alzheimer's disease pedigrees. Science 290 (2000) 2303-2304
13. Farrer L.A., Bowirrat A., Friedland R.P., Waraska K., Korczyn A.D., and Baldwin C.T. Identification of multiple loci for Alzheimer disease in a consanguineous Israeli-Arab community. Hum. Mol. Genet. 12 (2003) 415-422
14. Gouaux E., and Mackinnon R. Principles of selective ion transport in channels and pumps. Science 310 (2005) 1461-1465
15. Grupe A., Li Y., Rowland C., Nowotny P., Hinrichs A.L., Smemo S., Kauwe J.S., Maxwell T.J., Cherny S., Doil L., et al. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. Am. J. Hum. Genet. 78 (2006) 78-88
16. Kasprzyk A., Keefe D., Smedley D., London D., Spooner W., Melsopp C., Hammond M., Rocca-Serra P., Cox T., and Birney E. EnsMart: A generic system for fast and flexible access to biological data. Genome Res. 14 (2004) 160-169
17. Kehoe P., Wavrant-De Vrieze F., Crook R., Wu W.S., Holmans P., Fenton I., Spurlock G., Norton N., Williams H., Williams N., et al. A full genome scan for late onset Alzheimer's disease. Hum. Mol. Genet. 8 (1999) 237-245
18. Kennedy J.L., Farrer L.A., Andreasen N.C., Mayeux R., and St George-Hyslop P. The genetics of adult-onset neuropsychiatric disease: Complexities and conundra?. Science 302 (2003) 822-826
19. Khachaturian Z.S. Calcium, membranes, aging, and Alzheimer's disease. Introduction and overview. Ann. N Y Acad. Sci. 568 (1989) 1-4
20. Kuwano R., Miyashita A., Arai H., Asada T., Imagawa M., Shoji M., Higuchi S., Urakami K., Kakita A., Takahashi H., et al. Dynamin-binding protein gene on chromosome 10q is associated with late-onset Alzheimer's disease. Hum. Mol. Genet. 15 (2006) 2170-2182
21. LaFerla F.M. Calcium dyshomeostasis and intracellular signalling in Alzheimer's disease. Nat. Rev. Neurosci. 3 (2002) 862-872
22. Lambert J.C., and Amouyel P. Genetic heterogeneity of Alzheimer's disease: Complexity and advances. Psychoneuroendocrinology 32 Suppl. 1 (2007) S62-S70
23. Marambaud P., and Robakis N.K. Genetic and molecular aspects of Alzheimer's disease shed light on new mechanisms of transcriptional regulation. Genes Brain Behav. 4 (2005) 134-146
24. Marambaud P., Zhao H., and Davies P. Resveratrol promotes clearance of Alzheimer's disease amyloid-beta peptides. J. Biol. Chem. 280 (2005) 37377-37382
25. Mattson M.P. Pathways towards and away from Alzheimer's disease. Nature 430 (2004) 631-639
26. Minster R.L., DeKosky S.T., and Kamboh M.I. Lack of association of two chromosome 10q24 SNPs with Alzheimer's disease. Neurosci. Lett. 408 (2006) 170-172
27. Myers A., Holmans P., Marshall H., Kwon J., Meyer D., Ramic D., Shears S., Booth J., DeVrieze F.W., Crook R., et al. Susceptibility locus for Alzheimer's disease on chromosome 10. Science 290 (2000) 2304-2305
28. Pastor P., and Goate A.M. Molecular genetics of Alzheimer's disease. Curr. Psychiatry Rep. 6 (2004) 125-133
29. Selkoe D.J. Alzheimer's disease: Genes, proteins, and therapy. Physiol. Rev. 81 (2001) 741-766
30. Shibuya I., and Douglas W.W. Calcium channels in rat melanotrophs are permeable to manganese, cobalt, cadmium, and lanthanum, but not to nickel: Evidence provided by fluorescence changes in fura-2-loaded cells. Endocrinology 131 (1992) 1936-1941
31. Skrabanek L., and Campagne F. TissueInfo: High-throughput identification of tissue expression profiles and specificity. Nucleic Acids Res. 29 (2001) E102-E102
32. Strittmatter W.J., Saunders A.M., Schmechel D., Pericak-Vance M., Enghild J., Salvesen G.S., and Roses A.D. Apolipoprotein E: High-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. Proc. Natl. Acad. Sci. USA 90 (1993) 1977-1981
33. Tu H., Nelson O., Bezprozvanny A., Wang Z., Lee S.F., Hao Y.H., Serneels L., De Strooper B., Yu G., and Bezprozvanny I. Presenilins form ER Ca2+ leak channels, a function disrupted by familial Alzheimer's disease-linked mutations. Cell 126 (2006) 981-993
34. Wilquet V., and De Strooper B. Amyloid-beta precursor protein processing in neurodegeneration. Curr. Opin. Neurobiol. 14 (2004) 582-588
35. Wollmuth L.P., and Sobolevsky A.I. Structure and gating of the glutamate receptor ion channel. Trends Neurosci. 27 (2004) 321-328