Interaction of ApoE3 and ApoE4 isoforms with an ITM2b/BRI2 mutation linked to the Alzheimer disease-like Danish dementia: Effects on learning and memory

Neurobiology of Learning and Memory - Tập 126 - Trang 18-30 - 2015
Fabrizio Biundo1, Keita Ishiwari1, Dolores Del Prete1, Luciano D’Adamio1
1Department of Microbiology & Immunology, Albert Einstein College of Medicine, Bronx, New York, United States

Tài liệu tham khảo

Bachmeier, 2014, Apolipoprotein E isoform-specific effects on lipoprotein receptor processing, NeuroMolecular Medicine, 16, 686, 10.1007/s12017-014-8318-6 Bales, 2009, Human APOE isoform-dependent effects on brain beta-amyloid levels in PDAPP transgenic mice, The Journal of Neuroscience: The Official Journal of the Society for Neuroscience, 29, 6771, 10.1523/JNEUROSCI.0887-09.2009 Baxter, 2003, Apolipoprotein E epsilon 4 affects new learning in cognitively normal individuals at risk for Alzheimer’s disease, Neurobiology of Aging, 24, 947, 10.1016/S0197-4580(03)00006-X Beffert, 1998, The neurobiology of apolipoproteins and their receptors in the CNS and Alzheimer’s disease, Brain Research. Brain Research Reviews, 27, 119, 10.1016/S0165-0173(98)00008-3 Bell, 2007, Transport pathways for clearance of human Alzheimer’s amyloid beta-peptide and apolipoproteins E and J in the mouse central nervous system, Journal of Cerebral Blood Flow and Metabolism, 27, 909, 10.1038/sj.jcbfm.9600419 Bondi, 1995, Episodic memory changes are associated with the APOE-epsilon 4 allele in nondemented older adults, Neurology, 45, 2203, 10.1212/WNL.45.12.2203 Bosco, 2005, Allele epsilon 4 of APOE is a stronger predictor of Alzheimer risk in Sicily than in continental South Italy, Neuroscience Letters, 388, 168, 10.1016/j.neulet.2005.06.056 Bour, 2008, Middle-aged human apoE4 targeted-replacement mice show retention deficits on a wide range of spatial memory tasks, Behavioural Brain Research, 193, 174, 10.1016/j.bbr.2008.05.008 Boyles, 1985, Apolipoprotein E associated with astrocytic glia of the central nervous system and with nonmyelinating glia of the peripheral nervous system, The Journal of Clinical Investigation, 76, 1501, 10.1172/JCI112130 Castellano, 2011, Human apoE isoforms differentially regulate brain amyloid-beta peptide clearance, Science Translational Medicine, 3, 89ra57, 10.1126/scitranslmed.3002156 Corder, 1994, Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease, Nature Genetics, 7, 180, 10.1038/ng0694-180 Corder, 1993, Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer’s disease in late onset families, Science (New York, NY), 261, 921, 10.1126/science.8346443 Crean, 2011, Apolipoprotein E epsilon4 prevalence in Alzheimer’s disease patients varies across global populations: A systematic literature review and meta-analysis, Dementia and Geriatric Cognitive Disorders, 31, 20, 10.1159/000321984 Flory, 2000, Memory performance and the apolipoprotein E polymorphism in a community sample of middle-aged adults, American Journal of Medical Genetics, 96, 707, 10.1002/1096-8628(20001204)96:6<707::AID-AJMG1>3.0.CO;2-V Fotinopoulou, 2005, BRI2 interacts with amyloid precursor protein (APP) and regulates amyloid beta (Abeta) production, Journal of Biological Chemistry, 280, 30768, 10.1074/jbc.C500231200 Frieden, 2012, Structural differences between apoE3 and apoE4 may be useful in developing therapeutic agents for Alzheimer’s disease, Proceedings of the National academy of Sciences of the United States of America, 109, 8913, 10.1073/pnas.1207022109 Ghiso, 2006, Genetic alterations of the BRI2 gene: Familial British and Danish dementias, Brain Pathology, 16, 71, 10.1111/j.1750-3639.2006.tb00563.x Giliberto, 2009, Generation and initial characterization of FDD knock in mice, PLoS One, 4, e7900, 10.1371/journal.pone.0007900 Grootendorst, 2005, Human apoE targeted replacement mouse lines: h-apoE4 and h-apoE3 mice differ on spatial memory performance and avoidance behavior, Behavioural Brain Research, 159, 1, 10.1016/j.bbr.2004.09.019 Hardy, 1997, Amyloid, the presenilins and Alzheimer’s disease, Trends in Neurosciences, 20, 154, 10.1016/S0166-2236(96)01030-2 Hauser, 2011, Apolipoprotein E: From lipid transport to neurobiology, Progress in Lipid Research, 50, 62, 10.1016/j.plipres.2010.09.001 Holton, 2002, Familial Danish dementia: A novel form of cerebral amyloidosis associated with deposition of both amyloid-Dan and amyloid-beta, Journal of Neuropathology and Experimental Neurology, 61, 254, 10.1093/jnen/61.3.254 Huang, 2011, Roles of apolipoprotein E4 (ApoE4) in the pathogenesis of Alzheimer’s disease: Lessons from ApoE mouse models, Biochemical Society Transactions, 39, 924, 10.1042/BST0390924 Kim, 2009, The role of apolipoprotein E in Alzheimer’s disease, Neuron, 63, 287, 10.1016/j.neuron.2009.06.026 Kim, 2014, Apolipoprotein E in synaptic plasticity and Alzheimer’s disease: Potential cellular and molecular mechanisms, Molecules and Cells, 37, 767, 10.14348/molcells.2014.0248 Knouff, 1999, Apo E structure determines VLDL clearance and atherosclerosis risk in mice, The Journal of Clinical Investigation, 103, 1579, 10.1172/JCI6172 Mahley, 1988, Apolipoprotein E: Cholesterol transport protein with expanding role in cell biology, Science (New York, NY), 240, 622, 10.1126/science.3283935 Matsuda, 2005, The familial dementia BRI2 gene binds the Alzheimer gene amyloid-beta precursor protein and inhibits amyloid-beta production, The Journal of Biological Chemistry, 280, 28912, 10.1074/jbc.C500217200 Matsuda, 2008, BRI2 inhibits amyloid beta-peptide precursor protein processing by interfering with the docking of secretases to the substrate, The Journal of Neuroscience: The Official Journal of the Society for Neuroscience, 28, 8668, 10.1523/JNEUROSCI.2094-08.2008 Matsuda, 2011, Maturation of BRI2 generates a specific inhibitor that reduces APP processing at the plasma membrane and in endocytic vesicles, Neurobiology of Aging, 32, 1400, 10.1016/j.neurobiolaging.2009.08.005 Matsuda, 2011, Increased AbetaPP processing in familial Danish dementia patients, Journal of Alzheimer’s Disease: JAD, 27, 385, 10.3233/JAD-2011-110785 Nalbantoglu, 1997, Impaired learning and LTP in mice expressing the carboxy terminus of the Alzheimer amyloid precursor protein, Nature, 387, 500, 10.1038/387500a0 Oster-Granite, 1996, Age-dependent neuronal and synaptic degeneration in mice transgenic for the C terminus of the amyloid precursor protein, Journal of Neuroscience, 16, 6732, 10.1523/JNEUROSCI.16-21-06732.1996 Panza, 2000, Apolipoprotein E in Southern Italy: Protective effect of epsilon 2 allele in early- and late-onset sporadic Alzheimer’s disease, Neuroscience Letters, 292, 79, 10.1016/S0304-3940(00)01447-6 Panza, 1999, Decreased frequency of apolipoprotein E epsilon4 allele from Northern to Southern Europe in Alzheimer’s disease patients and centenarians, Neuroscience Letters, 277, 53, 10.1016/S0304-3940(99)00860-5 Pfrieger, 2003, Cholesterol homeostasis and function in neurons of the central nervous system, Cellular and Molecular Life Sciences, 60, 1158, 10.1007/s00018-003-3018-7 Pitas, 1987, Lipoproteins and their receptors in the central nervous system. Characterization of the lipoproteins in cerebrospinal fluid and identification of apolipoprotein B, E(LDL) receptors in the brain, The Journal of Biological Chemistry, 262, 14352, 10.1016/S0021-9258(18)47945-8 Plant, 1990, Familial cerebral amyloid angiopathy with nonneuritic amyloid plaque formation, Brain, 113, 721, 10.1093/brain/113.3.721 Revesz, 1999, Cytoskeletal pathology in familial cerebral amyloid angiopathy (British type) with non-neuritic amyloid plaque formation, Acta Neuropathologica, 97, 170, 10.1007/s004010050970 Rostagno, 2002, Complement activation in chromosome 13 dementias. Similarities with Alzheimer’s disease, The Journal of Biological Chemistry, 277, 49782, 10.1074/jbc.M206448200 Saunders, 1993, Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer’s disease, Neurology, 43, 1467, 10.1212/WNL.43.8.1467 Selkoe, 1991, The molecular pathology of Alzheimer’s disease, Neuron, 6, 487, 10.1016/0896-6273(91)90052-2 Selkoe, 2002, Deciphering the genesis and fate of amyloid beta-protein yields novel therapies for Alzheimer disease, The Journal of Clinical Investigation, 110, 1375, 10.1172/JCI0216783 Selkoe, 2011, Alzheimer’s disease, Cold Spring Harbor Perspectives in Biology, 3, 10.1101/cshperspect.a004457 Sherrington, 1995, Cloning of a gene bearing missense mutations in early-onset familial Alzheimer’s disease, Nature, 375, 754, 10.1038/375754a0 Stromgren, 1970, Cataract, deafness, cerebellar ataxia, psychosis and dementia – A new syndrome, Acta Neurologica Scandinavica, 46, 261 Suh, 2000, Roles of A beta and carboxyl terminal peptide fragments of amyloid precursor protein in Alzheimer disease, Journal of Neural Transmission. Supplementum, 65 Sullivan, 2004, Marked regional differences of brain human apolipoprotein E expression in targeted replacement mice, Neuroscience, 124, 725, 10.1016/j.neuroscience.2003.10.011 Sullivan, 1997, Targeted replacement of the mouse apolipoprotein E gene with the common human APOE3 allele enhances diet-induced hypercholesterolemia and atherosclerosis, The Journal of Biological Chemistry, 272, 17972, 10.1074/jbc.272.29.17972 Tamayev, 2012, Inhibition of gamma-secretase worsens memory deficits in a genetically congruous mouse model of Danish dementia, Molecular Neurodegeneration, 7, 19, 10.1186/1750-1326-7-19 Tamayev, 2010, Memory deficits due to familial British dementia BRI2 mutation are caused by loss of BRI2 function rather than amyloidosis, The Journal of Neuroscience: The Official Journal of the Society for Neuroscience, 30, 14915, 10.1523/JNEUROSCI.3917-10.2010 Tamayev, 2012, Beta- but not gamma-secretase proteolysis of APP causes synaptic and memory deficits in a mouse model of dementia, EMBO Molecular Medicine, 4, 171, 10.1002/emmm.201100195 Tamayev, 2010, Danish dementia mice suggest that loss of function and not the amyloid cascade causes synaptic plasticity and memory deficits, Proceedings of the National academy of Sciences of the United States of America, 107, 20822, 10.1073/pnas.1011689107 Tamayev, 2011, APP heterozygosity averts memory deficit in knockin mice expressing the Danish dementia BRI2 mutant, The EMBO Journal, 30, 2501, 10.1038/emboj.2011.161 Tang, 1996, Effect of age, ethnicity, and head injury on the association between APOE genotypes and Alzheimer’s disease, Annals of the New York Academy of Sciences, 802, 6, 10.1111/j.1749-6632.1996.tb32593.x Tang, 1998, The APOE-epsilon4 allele and the risk of Alzheimer disease among African Americans, whites, and Hispanics, JAMA, 279, 751, 10.1001/jama.279.10.751 Vidal, 1999, A stop-codon mutation in the BRI gene associated with familial British dementia, Nature, 399, 776, 10.1038/21637 Vidal, 2000, A decamer duplication in the 3′ region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred, Proceedings of the National academy of Sciences of the United States of America, 97, 4920, 10.1073/pnas.080076097 Weisgraber, 1981, Human E apoprotein heterogeneity. Cysteine-arginine interchanges in the amino acid sequence of the apo-E isoforms, The Journal of Biological Chemistry, 256, 9077, 10.1016/S0021-9258(19)52510-8 West, 1994, Frequency of the apolipoprotein E epsilon 2 allele is diminished in sporadic Alzheimer disease, Neuroscience Letters, 175, 46, 10.1016/0304-3940(94)91074-X Wilson, 2002, The apolipoprotein E epsilon 4 allele and decline in different cognitive systems during a 6-year period, Archives of Neurology, 59, 1154, 10.1001/archneur.59.7.1154 Worster-Drought, 1933, Familial presenile dementia with spastic paralysis, Journal of Neurology and Psychopathology, 14, 27, 10.1136/jnnp.s1-14.53.27 Youmans, 2012, APOE4-specific changes in Abeta accumulation in a new transgenic mouse model of Alzheimer disease, The Journal of Biological Chemistry, 287, 41774, 10.1074/jbc.M112.407957 Yu, 2014, Apolipoprotein E in Alzheimer’s disease: An update, Annual Review of Neuroscience, 37, 79, 10.1146/annurev-neuro-071013-014300 Zannis, 1981, Human very low density lipoprotein apolipoprotein E isoprotein polymorphism is explained by genetic variation and posttranslational modification, Biochemistry, 20, 1033, 10.1021/bi00507a059