Bcl-2 SNP rs956572 associates with disrupted intracellular calcium homeostasis in bipolar I disorder

Bipolar Disorders

Volumn 13, Issue 1, 2011, Pages 41-51

  Uemura, Takuji ^a,b   Green, Marty ^a   Corson, Timothy W ^c   Perova, Tatiana ^d   Li, Peter P ^a,b,d   Warsh, Jerry J ^a,b,d,e  

^a CENTRE FOR ADDICTION AND MENTAL HEALTH   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c YALE UNIVERSITY   (United States)

^d Department of Medical Biophysics ^*  (Canada)

^e Institute of Medical Science   (Canada)

Author keywords

B lymphoblast cell lines; Bcl 2; Bipolar disorder; Endoplasmic reticulum; Intracellular calcium homeostasis; SNP

Indexed keywords

CALCIUM; GENOMIC DNA; LYSOPHOSPHATIDIC ACID; MESSENGER RNA; PROTEIN BCL 2; THAPSIGARGIN;

ADULT; ARTICLE; B LYMPHOBLAST; B LYMPHOCYTE; BIPOLAR I DISORDER; BIPOLAR II DISORDER; CALCIUM CELL LEVEL; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; FEMALE; GENETIC VARIABILITY; GENOTYPE; GRAY MATTER; HUMAN; HUMAN CELL; IMMUNOBLOTTING; MAJOR CLINICAL STUDY; MAJOR DEPRESSION; MALE; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; B-LYMPHOCYTES; BIPOLAR DISORDER; CALCIUM; CASE-CONTROL STUDIES; DEPRESSIVE DISORDER, MAJOR; ENDOPLASMIC RETICULUM; FEMALE; GENES, BCL-2; GENOTYPE; HOMEOSTASIS; HUMANS; IMMUNOBLOTTING; LEUKEMIA, LYMPHOCYTIC, CHRONIC, B-CELL; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; YOUNG ADULT;

EID: 79951498943     PISSN: 13985647     EISSN: 13995618     Source Type: Journal    
DOI: 10.1111/j.1399-5618.2011.00897.x     Document Type: Article

References (59)

1. Warsh JJ, Andreopoulos S, Li PP. Role of intracellular calcium signaling in the pathophysiology and pharmacotherapy of bipolar disorder: current status. Clin Neurosci Res 2004; 4: 201-213.
2. Kato T. Molecular neurobiology of bipolar disorder: a disease of 'mood-stabilizing neurons'? Trends Neurosci 2008; 31: 495-503.
3. Clapham DE. Calcium signaling. Cell 2007; 131: 1047-1058.
4. Cataldo AM, McPhie DL, Lange NT et al. Abnormalities in mitochondrial structure in cells from patients with bipolar disorder. Am J Pathol 2010; 177: 575-585.
5. Hayashi A, Kasahara T, Kametani M, Toyota T, Yoshikawa T, Kato T. Aberrant endoplasmic reticulum stress response in lymphoblastoid cells from patients with bipolar disorder. Int J Neuropsychopharmacol 2009; 12: 33-43.
6. So J, Warsh JJ, Li PP. Impaired endoplasmic reticulum stress response in B-lymphoblasts from patients with bipolar-I disorder. Biol Psychiatry 2007; 62: 141-147.
7. Adams JM, Cory S. The Bcl-2 protein family: arbiters of cell survival. Science 1998; 281: 1322-1326.
8. Sadoul R. BCL-2 family members in the development and degenerative pathologies of the nervous system. Cell Death Differ 1998; 5: 805-815.
9. Manji HK, Moore GJ, Chen G. Lithium at 50: have the neuroprotective effects of this unique cation been overlooked? Biol Psychiatry 1999; 46: 929-940.
10. Manji HK, Moore GJ, Chen G. Clinical and preclinical evidence for the neurotrophic effects of mood stabilizers: implications for the pathophysiology and treatment of manic-depressive illness. Biol Psychiatry 2000; 48: 740-754.
11. Chen RW, Chuang DM. Long term lithium treatment suppresses p53 and Bax expression but increases Bcl-2 expression. A prominent role in neuroprotection against excitotoxicity. J Biol Chem 1999; 274: 6039-6042.
12. Manji HK, Moore GJ, Chen G. Lithium up-regulates the cytoprotective protein Bcl-2 in the CNS in vivo: a role for neurotrophic and neuroprotective effects in manic depressive illness. J Clin Psychiatry 2000; 61(Suppl. 9): 82-96.
13. Bush AL, Hyson RL. Lithium increases bcl-2 expression in chick cochlear nucleus and protects against deafferentation-induced cell death. Neuroscience 2006; 138: 1341-1349.
14. Lai JS, Zhao C, Warsh JJ, Li PP. Cytoprotection by lithium and valproate varies between cell types and cellular stresses. Eur J Pharmacol 2006; 539: 18-26.
15. Chen DF, Schneider GE, Martinou JC, Tonegawa S. Bcl-2 promotes regeneration of severed axons in mammalian CNS. Nature 1997; 385: 434-439.
16. 2+ signaling to support the intrinsic regenerative capacity of CNS axons. EMBO J 2005; 24: 1068-1078.
17. Manji HK, Moore GJ, Rajkowska G, Chen G. Neuroplasticity and cellular resilience in mood disorders. Mol Psychiatry 2000; 5: 578-593.
18. Hockenbery D, Nunez G, Milliman C, Schreiber RD, Korsmeyer SJ. Bcl-2 is an inner mitochondrial membrane protein that blocks programmed cell death. Nature 1990; 348: 334-336.
19. Monaghan P, Robertson D, Amos TA, Dyer MJ, Mason DY, Greaves MF. Ultrastructural localization of BCL-2 protein. J Histochem Cytochem 1992; 40: 1819-1825.
20. Krajewski S, Tanaka S, Takayama S, Schibler MJ, Fenton W, Reed JC. Investigation of the subcellular distribution of the bcl-2 oncoprotein: residence in the nuclear envelope, endoplasmic reticulum, and outer mitochondrial membranes. Cancer Res 1993; 53: 4701-4714.
21. Kroemer G, Reed JC. Mitochondrial control of cell death. Nat Med 2000; 6: 513-519.
22. Lucken-Ardjomande S, Martinou JC. Regulation of Bcl-2 proteins and of the permeability of the outer mitochondrial membrane. C R Biol 2005; 328: 616-631.
23. Hetz CA. ER stress signaling and the BCL-2 family of proteins: from adaptation to irreversible cellular damage. Antioxid Redox Signal 2007; 9: 2345-2355.
24. 2+ homeostasis in the endoplasmic reticulum. Cell Death Differ 2006; 13: 1409-1418.
25. Csordas G, Hajnoczky G. SR/ER-mitochondrial local communication: calcium and ROS. Biochim Biophys Acta 2009; 1787: 1352-1362.
26. Szegezdi E, Macdonald DC, Ni Chonghaile T, Gupta S, Samali A. Bcl-2 family on guard at the ER. Am J Physiol Cell Physiol 2009; 296: C941-C953.
27. Salvadore G, Nugent AC, Chen G et al. Bcl-2 polymorphism influences gray matter volume in the ventral striatum in healthy humans. Biol Psychiatry 2009; 66: 804-807.
28. Machado-Vieira R, Pivovarova NB, Stanika RI et al. The Bcl-2 gene polymorphism rs956572AA increases inositol 1, 4, 5-triphosphate receptor-mediated endoplasmic reticulum calcium release in subjects with bipolar disorder. Biol Psychiatry 2011; 69: 344-352.
29. Emamghoreishi M, Schlichter L, Li PP et al. High intracellular calcium concentrations in transformed lymphoblasts from subjects with bipolar I disorder. Am J Psychiatry 1997; 154: 976-982.
30. Perova T, Wasserman MJ, Li PP, Warsh JJ. Hyperactive intracellular calcium dynamics in B lymphoblasts from patients with bipolar I disorder. Int J Neuropsychopharmacol 2008; 11: 185-196.
31. Emamghoreishi M, Li PP, Schlichter L, Parikh SV, Cooke R, Warsh JJ. Associated disturbances in calcium homeostasis and G protein-mediated cAMP signaling in bipolar I disorder. Biol Psychiatry 2000; 48: 665-673.
32. First MB, Spitzer RL, Robert L, Gibbon M, Williams JBW. Structured Clinical Interview for DSM-IV Axis I Disorders - Patient Edition (SCID-I/P, Version 2.0). New York: New York State Psychiatric Institute, Biometric Research Department, 1995.
33. First MB, Spitzer RL, Robert L, Gibbon M, Williams JBW. Structured Clinical Interview for DSM-IV Axis I Disorders - Non-patient Edition (SCID-I/NP, Version 2.0). New York: New York State Psychiatric Institute, Biometric Research Department, 1995.
34. Wasserman MJ, Corson TW, Sibony D et al. Chronic lithium treatment attenuates intracellular calcium mobilization. Neuropsychopharmacol 2004; 29: 759-769.
35. Silva WA Jr, Costa MC, Valente V et al. PCR template preparation for capillary DNA sequencing. BioTechniques 2001; 30: 537-542.
36. -ΔΔCT method. Methods 2001; 25: 402-408.
37. Corson TW, Woo KK, Li PP, Warsh JJ. Cell-type specific regulation of calreticulin and Bcl-2 expression by mood stabilizer drugs. Eur Neuropsychopharmacol 2004; 14: 143-150.
38. Rodriguez S, Gaunt TR, Day IN. Hardy-Weinberg equilibrium testing of biological ascertainment for Mendelian randomization studies. Am J Epidemiol 2009; 169: 505-514.
39. Stine OC, Xu J, Koskela R et al. Evidence for linkage of bipolar disorder to chromosome 18 with a parent-of-origin effect. Am J Hum Genet 1995; 57: 1384-1394.
40. Verheyen GR, Villafuerte SM, Del-Favero J et al. Genetic refinement and physical mapping of a chromosome 18q candidate region for bipolar disorder. Eur J Hum Genet 1999; 7: 427-434.
41. McMahon FJ, Simpson SG, McInnis MG, Badner JA, MacKinnon DF, DePaulo JR. Linkage of bipolar disorder to chromosome 18q and the validity of bipolar II disorder. Arch Gen Psychiatry 2001; 58: 1025-1031.
42. Camp NJ, Lowry MR, Richards RL et al. Genome-wide linkage analyses of extended Utah pedigrees identifies loci that influence recurrent, early-onset major depression and anxiety disorders. Am J Med Genet B Neuropsychiatr Genet 2005; 135B: 85-93.
43. O'Donovan MC, Craddock NJ, Owen MJ. Genetics of psychosis; insights from views across the genome. Hum Genet 2009; 126: 3-12.
44. Alaerts M, Del-Favero J. Searching genetic risk factors for schizophrenia and bipolar disorder: learn from the past and back to the future. Hum Mutat 2009; 30: 1139-1152.
45. Hindorff L, Junkins H, Hall P, Mehta J, Manolio T. A catalog of published genome-wide association studies. Available at: Last accessed 29 December 2010.
46. Hough C, Lu SJ, Davis CL, Chuang DM, Post RM. Elevated basal and thapsigargin-stimulated intracellular calcium of platelets and lymphocytes from bipolar affective disorder patients measured by a fluorometric microassay. Biol Psychiatry 1999; 46: 247-255.
47. Yuan P, Baum AE, Zhou R et al. Bcl-2 polymorphisms associated with mood disorders and antidepressant responsiveness regulate Bcl-2 gene expression and cellular resilience in human lymphoblastoid cell lines. Biol Psychiatry 2008; 63(Suppl. 1): 63S.
48. Lin PI, Vance JM, Pericak-Vance MA, Martin ER. No gene is an island: the flip-flop phenomenon. Am J Hum Genet 2007; 80: 531-538.
49. Kim HW, Rapoport SI, Rao JS. Altered expression of apoptotic factors and synaptic markers in postmortem brain from bipolar disorder patients. Neurobiol Dis 2010; 37: 596-603.
50. Peers B, Voz ML, Monget P et al. Regulatory elements controlling pituitary-specific expression of the human prolactin gene. Mol Cell Biol 1990; 10: 4690-4700.
51. Kouzarides T. Chromatin modifications and their function. Cell 2007; 128: 693-705.
52. Felsenfeld G, Groudine M. Controlling the double helix. Nature 2003; 421: 448-453.
53. 2+: molecular determinants and functional consequences. Physiol Rev 2006; 86: 369-408.
54. Hetz C, Glimcher L. The daily job of night killers: alternative roles of the BCL-2 family in organelle physiology. Trends Cell Biol 2008; 18: 38-44.
55. 2+ concentration within the endoplasmic reticulum. Proc Natl Acad Sci U S A 2000; 97: 5723-5728.
56. 2+ analyzed with an improved genetically encoded fluorescent sensor. Proc Natl Acad Sci U S A 2004; 101: 17404-17409.
57. 2+ influx in Bcl-2-overexpressing cells. J Cell Biol 2000; 148: 857-862.
58. Roedding AS, Li PP, Warsh JJ. Characterization of the transient receptor potential channels mediating lysophosphatidic acid-stimulated calcium mobilization in B lymphoblasts. Life Sci 2006; 80: 89-97.
59. 2+ mobilization by mediating the interaction between type I inositol 1, 4, 5-trisphosphate receptor, RACK1, and Orai1. J Biol Chem 2010; 285: 8045-8053.