Bridging integrator 1 (BIN1): Form, function, and Alzheimer's disease

Trends in Molecular Medicine

Volumn 19, Issue 10, 2013, Pages 594-603

  Tan, Meng Shan ^a,b   Yu, Jin Tai ^a,b   Tan, Lan ^a,b  

^a OCEAN UNIVERSITY OF CHINA   (China)

^b QINGDAO UNIVERSITY   (China)

Author keywords

Alzheimer's disease; BIN1; Genetics; Pathogenesis; Tau; Therapy

Indexed keywords

BRIDGING INTEGRATOR 1; PEPTIDES AND PROTEINS; UNCLASSIFIED DRUG;

ALZHEIMER DISEASE; APOPTOSIS; BRIDGING INTEGRATOR 1 GENE; CALCIUM HOMEOSTASIS; DNA METHYLATION; ENDOCYTOSIS; EPIGENETICS; GENE; GENETIC POLYMORPHISM; HUMAN; INFLAMMATION; REVIEW; TAUOPATHY;

ALZHEIMER'S DISEASE; BIN1; GENETICS; PATHOGENESIS; TAU; THERAPY;

AGE OF ONSET; ALZHEIMER DISEASE; EPIGENESIS, GENETIC; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MOLECULAR TARGETED THERAPY; NERVE TISSUE PROTEINS; TAUOPATHIES;

EID: 84884812572     PISSN: 14714914     EISSN: 1471499X     Source Type: Journal    
DOI: 10.1016/j.molmed.2013.06.004     Document Type: Review

References (95)

1. Gatz M., et al. Role of genes and environments for explaining Alzheimer disease. Arch. Gen. Psychiatry 2006, 63:168-174.
2. Harold D., et al. Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat. Genet. 2009, 41:1088-1093.
3. Lambert J.C., et al. Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat. Genet. 2009, 41:1094-1099.
4. Seshadri S., et al. Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA 2010, 303:1832-1840.
5. Naj A.C., et al. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat. Genet. 2011, 43:436-441.
6. Hollingworth P., et al. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat. Genet. 2011, 43:429-435.
7. Bertram L., et al. Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database. Nat. Genet. 2007, 39:17-23.
8. Chapuis J., et al. Increased expression of BIN1 mediates Alzheimer genetic risk by modulating tau pathology. Mol. Psychiatry 2013, 10.1038/mp.2013.1.
9. Yang S., et al. Comparative proteomic analysis of brains of naturally aging mice. Neuroscience 2008, 154:1107-1120.
10. Karch C.M., et al. Expression of novel Alzheimer's disease risk genes in control and Alzheimer's disease brains. PLoS ONE 2012, 7:e50976.
11. Ren G., et al. The BAR domain proteins: molding membranes in fission, fusion, and phagy. Microbiol. Mol. Biol. Rev. 2006, 70:37-120.
12. Wechsler-Reya R., et al. Structural analysis of the human BIN1 gene. Evidence for tissue-specific transcriptional regulation and alternate RNA splicing. J. Biol. Chem. 1997, 272:31453-31458.
13. Pineda-Lucena A., et al. A structure-based model of the c-Myc/Bin1 protein interaction shows alternative splicing of Bin1 and c-Myc phosphorylation are key binding determinants. J. Mol. Biol. 2005, 351:182-194.
14. Wigge P., et al. Amphiphysin heterodimers: potential role in clathrin-mediated endocytosis. Mol. Biol. Cell 1997, 8:2003-2015.
15. Sakamuro D., et al. BIN1 is a novel MYC-interacting protein with features of a tumour suppressor. Nat. Genet. 1996, 14:69-77.
16. Ramjaun A.R., McPherson P.S. Multiple amphiphysin II splice variants display differential clathrin binding: identification of two distinct clathrin-binding sites. J. Neurochem. 1998, 70:2369-2376.
17. McMahon H.T., et al. Clathrin interacts specifically with amphiphysin and is displaced by dynamin. FEBS Lett. 1997, 413:319-322.
18. Tsutsui K., et al. cDNA cloning of a novel amphiphysin isoform and tissue-specific expression of its multiple splice variants. Biochem. Biophys. Res. Commun. 1997, 236:178-183.
19. Lee E., et al. Amphiphysin 2 (Bin1) and T-tubule biogenesis in muscle. Science 2002, 297:1193-1196.
20. Butler M.H., et al. Amphiphysin II (SH3P9; BIN1), a member of the amphiphysin/Rvs family, is concentrated in the cortical cytomatrix of axon initial segments and nodes of Ranvier in brain and around T tubules in skeletal muscle. J. Cell Biol. 1997, 137:1355-1367.
21. Leprince C., et al. A new member of the amphiphysin family connecting endocytosis and signal transduction pathways. J. Biol. Chem. 1997, 272:15101-15105.
22. Pant S., et al. AMPH-1/Amphiphysin/Bin1 functions with RME-1/Ehd1 in endocytic recycling. Nat. Cell Biol. 2009, 11:1399-1410.
23. Holton P., et al. Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk loci. Ann. Hum. Genet. 2013, 77:85-105.
24. Muller A.J., et al. Targeted disruption of the murine Bin1/Amphiphysin II gene does not disable endocytosis but results in embryonic cardiomyopathy with aberrant myofibril formation. Mol. Cell. Biol. 2003, 23:4295-4306.
25. Meunier B., et al. The membrane-tubulating potential of amphiphysin 2/BIN1 is dependent on the microtubule-binding cytoplasmic linker protein 170 (CLIP-170). Eur. J. Cell Biol. 2009, 88:91-102.
26. Galderisi U., et al. Induction of apoptosis and differentiation in neuroblastoma and astrocytoma cells by the overexpression of Bin1, a novel Myc interacting protein. J. Cell. Biochem. 1999, 74:313-322.
27. Elliott K., et al. The c-Myc-interacting adaptor protein Bin1 activates a caspase-independent cell death program. Oncogene 2000, 19:4669-4684.
28. DuHadaway J.B., et al. Bin1 mediates apoptosis by c-Myc in transformed primary cells. Cancer Res. 2001, 61:3151-3156.
29. Telfer J.F., et al. Suppression of MEK/ERK signalling by Myc: role of Bin-1. Cell. Signal. 2005, 17:701-708.
30. Wajapeyee N., et al. Oncogenic BRAF induces senescence and apoptosis through pathways mediated by the secreted protein IGFBP7. Cell 2008, 132:363-374.
31. Kamboh M.I., et al. Genome-wide association study of Alzheimer's disease. Transl. Psychiatry 2012, 2:e117.
32. Lambert J.C., et al. Evidence of the association of BIN1 and PICALM with the AD risk in contrasting European populations. Neurobiol. Aging 2011, 32:756.e11-756.e15.
33. Lee J.H., et al. Identification of novel loci for Alzheimer disease and replication of CLU, PICALM, and BIN1 in Caribbean Hispanic individuals. Arch. Neurol. 2011, 68:320-328.
34. Carrasquillo M.M., et al. Replication of BIN1 association with Alzheimer's disease and evaluation of genetic interactions. J. Alzheimers Dis. 2011, 24:751-758.
35. Hu X., et al. Meta-analysis for genome-wide association study identifies multiple variants at the BIN1 locus associated with late-onset Alzheimer's disease. PLoS ONE 2011, 6:e16616.
36. Wijsman E.M., et al. Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE. PLoS Genet. 2011, 7:e1001308.
37. Logue M.W., et al. A comprehensive genetic association study of Alzheimer disease in African Americans. Arch. Neurol. 2011, 68:1569-1579.
38. Tan L., et al. Association of GWAS-linked loci with late-onset Alzheimer's disease in a northern Han Chinese population. Alzheimers Dement. 2012, 10.1016/j.jalz.2012.08.007.
39. Chung S.J., et al. Association of GWAS top hits with late-onset Alzheimer disease in Korean population. Alzheimer Dis. Assoc. Disord. 2013, 10.1097/WAD.0b013e31826d7281.
40. Biffi A., et al. Genetic variation and neuroimaging measures in Alzheimer disease. Arch. Neurol. 2010, 67:677-685.
41. Schmidt C., et al. Alzheimer's disease: genetic polymorphisms and rate of decline. Dement. Geriatr. Cogn. Disord. 2012, 33:84-89.
42. Masoodi T.A., et al. Exploration of deleterious single nucleotide polymorphisms in late-onset Alzheimer disease susceptibility genes. Gene 2013, 512:429-437.
43. Barral S., et al. Genotype patterns at PICALM, CR1, BIN1, CLU, and APOE genes are associated with episodic memory. Neurology 2012, 78:1464-1471.
44. Bihaqi S.W., et al. Do epigenetic pathways initiate late onset Alzheimer disease (LOAD): towards a new paradigm. Curr. Alzheimer Res. 2012, 9:574-588.
45. Mastroeni D., et al. Epigenetic mechanisms in Alzheimer's disease. Neurobiol. Aging 2011, 32:1161-1180.
46. Allen M., et al. Novel late-onset Alzheimer disease loci variants associate with brain gene expression. Neurology 2012, 79:221-228.
47. Ge K., et al. Losses of the tumor suppressor BIN1 in breast carcinoma are frequent and reflect deficits in programmed cell death capacity. Int. J. Cancer 2000, 85:376-383.
48. Kuznetsova E.B., et al. Methylation of the BIN1 gene promoter CpG island associated with breast and prostate cancer. J. Carcinog. 2007, 6:9.
49. Barekati Z., et al. Methylation signature of lymph node metastases in breast cancer patients. BMC Cancer 2012, 12:244.
50. Radpour R., et al. Hypermethylation of tumor suppressor genes involved in critical regulatory pathways for developing a blood-based test in breast cancer. PLoS ONE 2011, 6:e16080.
51. McKenna E.S., et al. Epigenetic inactivation of the tumor suppressor BIN1 drives proliferation of SNF5-deficient tumors. Cell Cycle 2012, 11:1956-1965.
52. Lambert J.C., Amouyel P. Genetics of Alzheimer's disease: new evidences for an old hypothesis?. Curr. Opin. Genet. Dev. 2011, 21:295-301.
53. Morgan K. The three new pathways leading to Alzheimer's disease. Neuropathol. Appl. Neurobiol. 2011, 37:353-357.
54. Jones L., et al. Genetic evidence for the involvement of lipid metabolism in Alzheimer's disease. Biochim. Biophys. Acta 2010, 1801:754-761.
55. Carter C. Alzheimer's disease: APP, gamma secretase, APOE, CLU, CR1, PICALM, ABCA7, BIN1, CD2AP, CD33, EPHA1, and MS4A2, and their relationships with herpes simplex, C. pneumoniae, other suspect pathogens, and the immune system. Int. J. Alzheimers Dis. 2011, 2011:501862.
56. Braak H., Del Tredici K. The pathological process underlying Alzheimer's disease in individuals under thirty. Acta Neuropathol. 2011, 121:171-181.
57. Nakamura K., et al. Proline isomer-specific antibodies reveal the early pathogenic tau conformation in Alzheimer's disease. Cell 2012, 149:232-244.
58. Himmelstein D.S., et al. Tau as a therapeutic target in neurodegenerative disease. Pharmacol. Ther. 2012, 136:8-22.
59. Kingwell K. Alzheimer disease: BIN1 variant increases risk of Alzheimer disease through tau. Nat. Rev. Neurol. 2013, 9:184.
60. Taylor M.J., et al. A high precision survey of the molecular dynamics of mammalian clathrin-mediated endocytosis. PLoS Biol. 2011, 9:e1000604.
61. Wigge P., McMahon H.T. The amphiphysin family of proteins and their role in endocytosis at the synapse. Trends Neurosci. 1998, 21:339-344.
62. Di Paolo G., et al. Decreased synaptic vesicle recycling efficiency and cognitive deficits in amphiphysin 1 knockout mice. Neuron 2002, 33:789-804.
63. Leprince C., et al. Sorting nexin 4 and amphiphysin 2, a new partnership between endocytosis and intracellular trafficking. J. Cell Sci. 2003, 116:1937-1948.
64. Mayeux R., St George-Hyslop P. Brain traffic: subcellular transport of the amyloid precursor protein. Arch. Neurol. 2009, 66:433-434.
65. Mayeux R., Hyslop P.S. Alzheimer's disease: advances in trafficking. Lancet Neurol. 2008, 7:2-3.
66. Carey R.M., et al. Inhibition of dynamin-dependent endocytosis increases shedding of the amyloid precursor protein ectodomain and reduces generation of amyloid beta protein. BMC Cell Biol. 2005, 6:30.
67. Kelly B.L., Ferreira A. Beta-amyloid disrupted synaptic vesicle endocytosis in cultured hippocampal neurons. Neuroscience 2007, 147:60-70.
68. Treusch S., et al. Functional links between Aβ toxicity, endocytic trafficking, and Alzheimer's disease risk factors in yeast. Science 2011, 334:1241-1245.
69. Bali J., et al. Role of genes linked to sporadic Alzheimer's disease risk in the production of β-amyloid peptides. Proc. Natl. Acad. Sci. U.S.A. 2012, 109:15307-15311.
70. Salminen A., et al. Inflammation in Alzheimer's disease: amyloid-β oligomers trigger innate immunity defence via pattern recognition receptors. Prog. Neurobiol. 2009, 87:181-194.
71. Chang M.Y., et al. Bin1 ablation increases susceptibility to cancer during aging, particularly lung cancer. Cancer Res. 2007, 67:7605-7612.
72. Gold E.S., et al. Amphiphysin IIm is required for survival of Chlamydia pneumoniae in macrophages. J. Exp. Med. 2004, 200:581-586.
73. Wixler V., et al. Identification of novel interaction partners for the conserved membrane proximal region of α-integrin cytoplasmic domains. FEBS Lett. 1999, 445:351-355.
74. Muller A.J., et al. Inhibition of indoleamine 2,3-dioxygenase, an immunoregulatory target of the cancer suppression gene Bin1, potentiates cancer chemotherapy. Nat. Med. 2005, 11:312-319.
75. Muller A., et al. The missing link between indoleamine 2,3-dioxygenase mediated antibacterial and immunoregulatory effects. J. Cell. Mol. Med. 2009, 13:1125-1135.
76. MacKenzie C.R., et al. Role of indoleamine 2,3-dioxygenase in antimicrobial defence and immuno-regulation: tryptophan depletion versus production of toxic kynurenines. Curr. Drug Metab. 2007, 8:237-244.
77. Capuron L., Miller A.H. Immune system to brain signaling: neuropsychopharmacological implications. Pharmacol. Ther. 2011, 130:226-238.
78. Guillemin G.J., et al. Indoleamine 2,3 dioxygenase and quinolinic acid immunoreactivity in Alzheimer's disease hippocampus. Neuropathol. Appl. Neurobiol. 2005, 31:395-404.
79. Bonda D.J., et al. Indoleamine 2,3-dioxygenase and 3-hydroxykynurenine modifications are found in the neuropathology of Alzheimer's disease. Redox Rep. 2010, 15:161-168.
80. Yu C.J., et al. Oren-gedoku-to and its constituents with therapeutic potential in Alzheimer's disease inhibit indoleamine 2,3-dioxygenase activity in vitro. J. Alzheimers Dis. 2010, 22:257-266.
81. Gulaj E., et al. Kynurenine and its metabolites in Alzheimer's disease patients. Adv. Med. Sci. 2010, 55:204-211.
82. Widner B., et al. Tryptophan degradation and immune activation in Alzheimer's disease. J. Neural Transm. 2000, 107:343-353.
83. Zwilling D., et al. Kynurenine 3-monooxygenase inhibition in blood ameliorates neurodegeneration. Cell 2011, 145:863-874.
84. Yu J.T., et al. Calcium dysregulation in Alzheimer's disease: from mechanisms to therapeutic opportunities. Prog. Neurobiol. 2009, 89:240-255.
85. 2+ dysfunction in neurodegenerative disorders: Alzheimer's disease. Biofactors 2011, 37:189-196.
86. Anekonda T.S., Quinn J.F. Calcium channel blocking as a therapeutic strategy for Alzheimer's disease: the case for isradipine. Biochim. Biophys. Acta 2011, 1812:1584-1590.
87. Chakroborty S., Stutzmann G.E. Early calcium dysregulation in Alzheimer's disease: setting the stage for synaptic dysfunction. Sci. China Life Sci. 2011, 54:752-762.
88. 2+ signaling in adult skeletal muscle with acute knockdown of Bin1. PLoS ONE 2011, 6:e25740.
89. Hong T.T., et al. BIN1 localizes the L-type calcium channel to cardiac T-tubules. PLoS Biol. 2010, 8:e1000312.
90. Hong T.T., et al. BIN1 is reduced and Cav1.2 trafficking is impaired in human failing cardiomyocytes. Heart Rhythm 2012, 9:812-820.
91. Cassimere E.K., et al. The c-MYC-interacting proapoptotic tumor suppressor BIN1 is a transcriptional target for E2F1 in response to DNA damage. Cell Death Differ. 2009, 16:1641-1653.
92. Kinney E.L., et al. Adenovirus E1A oncoprotein liberates c-Myc activity to promote cell proliferation through abating Bin1 expression via an Rb/E2F1-dependent mechanism. J. Cell. Physiol. 2008, 216:621-631.
93. Staropoli J.F. Tumorigenesis and neurodegeneration: two sides of the same coin?. Bioessays 2008, 30:719-727.
94. Folch J., et al. Role of cell cycle re-entry in neurons: a common apoptotic mechanism of neuronal cell death. Neurotox. Res. 2012, 22:195-207.
95. Schellenberg G.D., Montine T.J. The genetics and neuropathology of Alzheimer's disease. Acta Neuropathol. 2012, 124:305-323.