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Alzheimer's disease genes and autophagy

Yoon, Seung-Yong, Kim, Dong-Hou·2016·Brain Research

Abstract

Autophagy is a process to degrade and recycle cellular constituents via the lysosome for regulating cellular homeostasis. Its dysfunction is now considered to be involved in many diseases, including neurodegenerative diseases. Many features reflecting autophagy impairment, such as autophagosome accumulation and lysosomal dysfunction, have been also revealed to be involved in Alzheimer's disease (AD). Recent genetic studies such as genome-wide association studies in AD have identified a number of novel genes associated with AD. Some of the identified genes have demonstrated dysfunction in autophagic processes in AD, while others remain under investigation. Since autophagy is strongly regarded to be one of the major pathogenic mechanisms of AD, it is necessary to review how the AD-associated genes are related to autophagy. We anticipate our current review to be a starting point for future studies regarding AD-associated genes and autophagy. This article is part of a Special Issue entitled SI:Autophagy.

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  • Pathological proteins associated with familial Alzheimer's disease are either autophagy substrates, such as amyloid-β and tau, or linked to autophagy regulation, such as presenilin and clusterin.

    “Moreover, pathological proteins associated with familial Alzheimer’s disease are either autophagy substrates, such as amyloid-β and tau, or linked to autophagy regulation, such as presenilin and clusterin [148].”

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Research works printed but not linked: 100

  1. Allen, 2012, Novel late-onset Alzheimer disease loci variants associate with brain gene expression, Neurology, 79, 221, 10.1212/WNL.0b013e3182605801 · DOI
  2. Bae, 2014, Phospholipase D1 regulates autophagic flux and clearance of alpha-synuclein aggregates, Cell. Death Differ., 21, 1132, 10.1038/cdd.2014.30 · DOI
  3. Caglayan, 2014, Lysosomal sorting of amyloid-beta by the SORLA receptor is impaired by a familial Alzheimer's disease mutation, Sci. Transl. Med., 6, 10.1126/scitranslmed.3007747 · DOI · Paper page
  4. Calero, 2000, Apolipoprotein J (clusterin) and Alzheimer's disease, Microsc. Res. Tech., 50, 305, 10.1002/1097-0029(20000815)50:4<305::AID-JEMT10>3.0.CO;2-L · DOI
  5. Castellano, 2011, Human apoE isoforms differentially regulate brain amyloid-β peptide clearance, Sci. Transl. Med., 3, 10.1126/scitranslmed.3002156 · DOI · Paper page
  6. Cella, 2003, Impaired differentiation of osteoclasts in TREM-2-deficient individuals, J. Exp. Med., 198, 645, 10.1084/jem.20022220 · DOI
  7. Chapuis, 2013, Increased expression of BIN1 mediates Alzheimer genetic risk by modulating tau pathology, Mol. Psychiatry, 18, 1225, 10.1038/mp.2013.1 · DOI · Paper page
  8. Chukkapalli, 2014, Role of the EphB2 receptor in autophagy, apoptosis and invasion in human breast cancer cells, Exp. Cell Res., 320, 233, 10.1016/j.yexcr.2013.10.022 · DOI
  9. Cormont, 2003, CD2AP/CMS regulates endosome morphology and traffic to the degradative pathway through its interaction with Rab4 and c-Cbl, Traffic, 4, 97, 10.1034/j.1600-0854.2003.40205.x · DOI
  10. Dall'Armi, 2010, The phospholipase D1 pathway modulates macroautophagy, Nat. Commun., 1, 142, 10.1038/ncomms1144 · DOI
  11. DeMattos, 2004, ApoE and clusterin cooperatively suppress Abeta levels and deposition: evidence that ApoE regulates extracellular Abeta metabolism in vivo, Neuron, 41, 193, 10.1016/S0896-6273(03)00850-X · DOI · Paper page
  12. Di Paolo, 2002, Decreased synaptic vesicle recycling efficiency and cognitive deficits in amphiphysin 1 knockout mice, Neuron, 33, 789, 10.1016/S0896-6273(02)00601-3 · DOI
  13. Dustin, 1998, A novel adaptor protein orchestrates receptor patterning and cytoskeletal polarity in T-Cell contacts, Cell, 94, 667, 10.1016/S0092-8674(00)81608-6 · DOI
  14. Fagan, 2002, Human and murine apoE markedly alters Aβ metabolism before and after plaque formation in a mouse model of Alzheimer's Disease, Neurobiol. Dis., 9, 305, 10.1006/nbdi.2002.0483 · DOI · Paper page
  15. Flanagan, 1998, The ephrins and Eph receptors in neural development, Annu. Rev. Neurosci., 21, 309, 10.1146/annurev.neuro.21.1.309 · DOI
  16. Frank, 2008, TREM2 is upregulated in amyloid plaque-associated microglia in aged APP23 transgenic mice, Glia, 56, 1438, 10.1002/glia.20710 · DOI · Paper page
  17. Frederick, 2015, Rapamycin ester analog CCI-779/Temsirolimus alleviates tau pathology and improves motor deficit in mutant tau transgenic mice, J. Alzheimers Dis., 44, 1145, 10.3233/JAD-142097 · DOI
  18. Grundke-Iqbal, 1986, Abnormal phosphorylation of the microtubule-associated protein tau (tau) in Alzheimer cytoskeletal pathology, Proc. Natl. Acad. Sci. USA, 83, 4913, 10.1073/pnas.83.13.4913 · DOI · Paper page
  19. Guerreiro, 2013, SnapShot: genetics of Alzheimer's disease, Cell, 155, 10.1016/j.cell.2013.10.037 · DOI
  20. Guerreiro, 2012, The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE, Neurobiol. Aging, 33, 437, 10.1016/j.neurobiolaging.2010.03.025 · DOI · Paper page
  21. Hale, 2013, Autophagy: regulation and role in development, Autophagy, 9, 951, 10.4161/auto.24273 · DOI
  22. Harel, 2008, Evidence for CALM in Directing VAMP2 Trafficking, Traffic, 9, 417, 10.1111/j.1600-0854.2007.00694.x · DOI · Paper page
  23. Heilmann, 2015, PLD3 in non-familial Alzheimer's disease, Nature, 520, E3, 10.1038/nature14039 · DOI
  24. Hollingworth, 2011, Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease, Nat. Genet., 43, 429, 10.1038/ng.803 · DOI · Paper page
  25. Hooli, 2015, PLD3 gene variants and Alzheimer's disease, Nature, 520, E7, 10.1038/nature14040 · DOI
  26. Hwang, 2014, Inhibition of phospholipase D2 induces autophagy in colorectal cancer cells, Exp. Mol. Med., 46, e124, 10.1038/emm.2014.74 · DOI
  27. Jaeger, 2010, Regulation of amyloid precursor protein processing by the Beclin 1 complex, PLoS One, 5, e11102, 10.1371/journal.pone.0011102 · DOI
  28. Jang, 2014, Phospholipase d-mediated autophagic regulation is a potential target for cancer therapy, Cell Death Differ., 21, 533, 10.1038/cdd.2013.174 · DOI
  29. Jiang, 2013, TREM2 in Alzheimer's disease, Mol. Neurobiol., 48, 180, 10.1007/s12035-013-8424-8 · DOI
  30. Jiang, 2014, Temsirolimus promotes autophagic clearance of amyloid-beta and provides protective effects in cellular and animal models of Alzheimer's disease, Pharmacol. Res., 81, 54, 10.1016/j.phrs.2014.02.008 · DOI
  31. Jiang, 2014, Temsirolimus attenuates tauopathy in vitro and in vivo by targeting tau hyperphosphorylation and autophagic clearance, Neuropharmacology, 85, 121, 10.1016/j.neuropharm.2014.05.032 · DOI
  32. Jo, 2014, Nrf2 reduces levels of phosphorylated tau protein by inducing autophagy adaptor protein NDP52, Nat. Commun., 5, 3496, 10.1038/ncomms4496 · DOI · Paper page
  33. Jones, 2002, Clusterin, Int. J. Biochem. Cell Biol., 34, 427, 10.1016/S1357-2725(01)00155-8 · DOI · Paper page
  34. Jorissen, 2010, The disintegrin/metalloproteinase ADAM10 is essential for the establishment of the brain cortex, J. Neurosci.: Off. J. Soc. Neurosci., 30, 4833, 10.1523/JNEUROSCI.5221-09.2010 · DOI · Paper page
  35. Jungbluth, 2014, Pathogenic mechanisms in centronuclear myopathies, Front. Aging Neurosci., 6, 339, 10.3389/fnagi.2014.00339 · DOI
  36. Kakio, 2004, Interaction between amyloid beta-protein aggregates and membranes, J. Pept. Sci.: Off. Publ. Eur. Pept. Soc., 10, 612, 10.1002/psc.570 · DOI
  37. Karch, 2015, Alzheimer's disease risk genes and mechanisms of disease pathogenesis, Biol. Psychiatry, 77, 43, 10.1016/j.biopsych.2014.05.006 · DOI · Paper page
  38. Kim, 2009, Potential late-onset Alzheimer's disease-associated mutations in the ADAM10 gene attenuate α-secretase activity, Hum. Mol. Genet., 18, 3987, 10.1093/hmg/ddp323 · DOI · Paper page
  39. Kim, 2014, NDP52 associates with phosphorylated tau in brains of an Alzheimer disease mouse model, Biochem. Biophys. Res. Commun., 454, 196, 10.1016/j.bbrc.2014.10.066 · DOI
  40. Kochl, 2006, Microtubules facilitate autophagosome formation and fusion of autophagosomes with endosomes, Traffic, 7, 129, 10.1111/j.1600-0854.2005.00368.x · DOI
  41. Kruger, 2012, Autophagic degradation of tau in primary neurons and its enhancement by trehalose, Neurobiol. Aging, 33, 2291, 10.1016/j.neurobiolaging.2011.11.009 · DOI · Paper page
  42. Lambert, 2009, Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease, Nat. Genet., 41, 1094, 10.1038/ng.439 · DOI · Paper page
  43. Lambert, 2013, Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease, Nat. Genet., 45, 1452, 10.1038/ng.2802 · DOI · Paper page
  44. Lambert, 2015, PLD3 and sporadic Alzheimer's disease risk, Nature, 520, E1, 10.1038/nature14036 · DOI
  45. Lee, 2010, Lysosomal proteolysis and autophagy require presenilin 1 and are disrupted by Alzheimer-related PS1 mutations, Cell, 141, 1146, 10.1016/j.cell.2010.05.008 · DOI · Paper page
  46. Lein, 2007, Genome-wide atlas of gene expression in the adult mouse brain, Nature, 445, 168, 10.1038/nature05453 · DOI · Paper page
  47. Lesuisse, 2001, Hyper-expression of human apolipoprotein E4 in astroglia and neurons does not enhance amyloid deposition in transgenic mice, Hum. Mol. Genet., 10, 2525, 10.1093/hmg/10.22.2525 · DOI
  48. Li, 2013, Autophagy enhancer carbamazepine alleviates memory deficits and cerebral amyloid-beta pathology in a mouse model of Alzheimer's disease, Curr. Alzheimer Res., 10, 433, 10.2174/1567205011310040008 · DOI
  49. Liu, 2013, BACE2 degradation mediated by the macroautophagy-lysosome pathway, Eur. J. Neurosci., 37, 1970, 10.1111/ejn.12204 · DOI
  50. Lonskaya, 2014, Tau deletion impairs intracellular beta-amyloid-42 clearance and leads to more extracellular plaque deposition in gene transfer models, Mol. Neurodegener., 9, 46, 10.1186/1750-1326-9-46 · DOI
  51. Lunemann, 2007, Beta-amyloid is a substrate of autophagy in sporadic inclusion body myositis, Ann. Neurol., 61, 476, 10.1002/ana.21115 · DOI
  52. Masters, 2012, Biochemistry of amyloid β-Protein and amyloid deposits in Alzheimer disease, Cold Spring Harb. Perspect. Med., 2, a006262, 10.1101/cshperspect.a006262 · DOI
  53. Matsubara, 1995, Characterization of apolipoprotein J-Alzheimer's Aβ interaction, J. Biol. Chem., 270, 7563, 10.1074/jbc.270.13.7563 · DOI · Paper page
  54. Matsubara, 1996, Apolipoprotein J and Alzheimer's amyloid β solubility, Biochem. J., 316, 671, 10.1042/bj3160671 · DOI
  55. Maurer, 2015, Autophagy mediates tolerance to Staphylococcus aureus alpha-toxin, Cell Host Microbe, 17, 429, 10.1016/j.chom.2015.03.001 · DOI · Paper page
  56. McDermott, 2004, Phospholipase D, Biochem. Cell Biol., 82, 225, 10.1139/o03-079 · DOI
  57. McMahon, 1997, Clathrin interacts specifically with amphiphysin and is displaced by dynamin1, FEBS Lett., 413, 319, 10.1016/S0014-5793(97)00928-9 · DOI
  58. Melchior, 2010, Dual induction of TREM2 and tolerance-related transcript, Tmem176b, in amyloid transgenic mice: implications for vaccine-based therapies for Alzheimer's disease, ASN Neuro, 2, e00037, 10.1042/AN20100010 · DOI
  59. Mizushima, 2005, A(beta) generation in autophagic vacuoles, J. Cell Biol., 171, 15, 10.1083/jcb.200508097 · DOI
  60. Moreau, 2014, PICALM modulates autophagy activity and tau accumulation, Nat. Commun., 5, 4998, 10.1038/ncomms5998 · DOI · Paper page
  61. Munck, 2005, Hu-K4 is a ubiquitously expressed type 2 transmembrane protein associated with the endoplasmic reticulum, FEBS J., 272, 1718, 10.1111/j.1742-4658.2005.04601.x · DOI
  62. Murphy, 2007, Kinetics of amyloid formation and membrane interaction with amyloidogenic proteins, Biochim. Biophys. Acta – Biomembr., 1768, 1923, 10.1016/j.bbamem.2006.12.014 · DOI
  63. Neely, 2011, Presenilin is necessary for efficient proteolysis through the autophagy-lysosome system in a gamma-secretase-independent manner, J. Neurosci.: Off. J. Soc. Neurosci., 31, 2781, 10.1523/JNEUROSCI.5156-10.2010 · DOI · Paper page
  64. Negorev, 1996, The Bin1 gene localizes to human chromosome 2q14 by PCR analysis of somatic cell hybrids and fluorescence in situ hybridization, Genomics, 33, 329, 10.1006/geno.1996.0205 · DOI
  65. Nixon, 2007, Autophagy, amyloidogenesis and Alzheimer disease, J. Cell Sci., 120, 4081, 10.1242/jcs.019265 · DOI · Paper page
  66. Nixon, 2013, The role of autophagy in neurodegenerative disease, Nat. Med., 19, 983, 10.1038/nm.3232 · DOI · Paper page
  67. Pacheco, 2009, Tau deletion exacerbates the phenotype of Niemann-Pick type C mice and implicates autophagy in pathogenesis, Hum. Mol. Genet., 18, 956, 10.1093/hmg/ddn423 · DOI
  68. Park, 2015, Disease-associated mutations of TREM2 alter the processing of N-linked oligosaccharides in the Golgi apparatus, Traffic, 16, 510, 10.1111/tra.12264 · DOI
  69. Perucho, 2012, Trehalose protects from aggravation of amyloid pathology induced by isoflurane anesthesia in APP(swe) mutant mice, Curr. Alzheimer Res., 9, 334, 10.2174/156720512800107573 · DOI
  70. Pickford, 2008, The autophagy-related protein beclin 1 shows reduced expression in early Alzheimer disease and regulates amyloid beta accumulation in mice, J. Clin. Investig., 118, 2190
  71. Postina, 2004, A disintegrin-metalloproteinase prevents amyloid plaque formation and hippocampal defects in an Alheizmer disease mouse model, J. Clin. Investig., 113, 1456, 10.1172/JCI20864 · DOI · Paper page
  72. Ramjaun, 1998, Multiple amphiphysin II splice variants display differential clathrin binding: Identification of two distinct clathrin-binding sites, J. Neurochem., 70, 2369, 10.1046/j.1471-4159.1998.70062369.x · DOI
  73. Rodriguez-Navarro, 2010, Trehalose ameliorates dopaminergic and tau pathology in parkin deleted/tau overexpressing mice through autophagy activation, Neurobiol. Dis., 39, 423, 10.1016/j.nbd.2010.05.014 · DOI · Paper page
  74. Sanan, 1994, Apolipoprotein E associates with β Amyloid Peptide of Alzheimer's disease to form novel monofibrils: isoform ApoE4 associates more efficiently than ApoE3, J. Clin. Investig., 94, 860, 10.1172/JCI117407 · DOI · Paper page
  75. Sasahara, 2013, Effects of membrane interaction and aggregation of amyloid beta-peptide on lipid mobility and membrane domain structure, Phys. Chem. Chem. Phys., 15, 8929, 10.1039/c3cp44517h · DOI
  76. Satoh, 2014, PLD3 is accumulated on neuritic plaques in Alzheimer's disease brains, Alzheimer's. Res. Ther., 6, 70, 10.1186/s13195-014-0070-5 · DOI
  77. Scherzer, 2004, Loss of apolipoprotein E receptor LR11 in Alzheimer disease, Arch. Neurol., 61, 1200, 10.1001/archneur.61.8.1200 · DOI · Paper page
  78. Shulman, 2011, Functional Screening of Alzheimer Pathology Genome-wide Association Signals in Drosophila, Am. J. Hum. Genet., 88, 232, 10.1016/j.ajhg.2011.01.006 · DOI
  79. Shulman, 2013, Genetic susceptibility for Alzheimer disease neuritic plaque pathology, JAMA Neurol., 70, 1150, 10.1001/jamaneurol.2013.2815 · DOI
  80. Steele, 2013, Latrepirdine (Dimebon(R)), a potential Alzheimer therapeutic, regulates autophagy and neuropathology in an Alzheimer mouse model, Autophagy, 9, 617, 10.4161/auto.23487 · DOI
  81. Strittmatter, 1993, Binding of human apolipoprotein E to synthetic amyloid β peptide: Isoform-specific effects and implications for late-onset Alzheimer disease, Proc. Natl. Acad. Sci. USA, 90, 8098, 10.1073/pnas.90.17.8098 · DOI · Paper page
  82. Tanabe, 2011, Sesamin induces autophagy in colon cancer cells by reducing tyrosine phosphorylation of EphA1 and EphB2, Int. J. Oncol., 39, 33
  83. Tian, 2011, A small-molecule enhancer of autophagy decreases levels of Abeta and APP-CTF via Atg5-dependent autophagy pathway, FASEB J., 25, 1934, 10.1096/fj.10-175158 · DOI
  84. Tsutsui, 1997, cDNA Cloning of a Novel Amphiphysin Isoform and Tissue-Specific Expression of Its Multiple Splice Variants, Biochem. Biophys. Res. Commun., 236, 178, 10.1006/bbrc.1997.6927 · DOI · Paper page
  85. van der Lee, 2015, PLD3 variants in population studies, Nature, 520, E2, 10.1038/nature14038 · DOI
  86. Wakabayashi, 2008, Presenilins: members of the gamma-secretase quartets, but part-time soloists too, Physiology, 23, 194, 10.1152/physiol.00009.2008 · DOI
  87. Wang, 2010, Generation of tau aggregates and clearance by autophagy in an inducible cell model of tauopathy, Neurodegener. Dis., 7, 103, 10.1159/000285516 · DOI
  88. Wang, 2010, Synergy and antagonism of macroautophagy and chaperone-mediated autophagy in a cell model of pathological tau aggregation, Autophagy, 6, 182, 10.4161/auto.6.1.10815 · DOI · Paper page
  89. Wechsler-Reya, 1997, Structural analysis of the human BIN1 gene. Evidence for tissue-specific transcriptional regulation and alternate RNA splicing, J. Biol. Chem., 272, 31453, 10.1074/jbc.272.50.31453 · DOI · Paper page
  90. Wendland, 1998, Protein traffic in the yeast endocytic and vacuolar protein sorting pathways, Curr. Opin. Cell. Biol., 10, 513, 10.1016/S0955-0674(98)80067-7 · DOI
  91. Wigge, 1998, The amphiphysin family of proteins and their role in endocytosis at the synapse, Trends Neurosci., 21, 339, 10.1016/S0166-2236(98)01264-8 · DOI · Paper page
  92. Wilson, 2004, Degradative organelles containing mislocalized alpha-and beta-synuclein proliferate in presenilin-1 null neurons, J. Cell. Biol., 165, 335, 10.1083/jcb.200403061 · DOI
  93. Xiao, 2012, Role of phosphatidylinositol clathrin assembly lymphoid-myeloid leukemia (PICALM) in intracellular amyloid precursor protein (APP) processing and amyloid plaque pathogenesis, J. Biol. Chem., 287, 21279, 10.1074/jbc.M111.338376 · DOI · Paper page
  94. Yang, 1998, Loss of endosomal/lysosomal membrane impermeability is an early event in amyloid Abeta1-42 pathogenesis, J. Neurosci. Res., 52, 691, 10.1002/(SICI)1097-4547(19980615)52:6<691::AID-JNR8>3.0.CO;2-3 · DOI
  95. Yoon, 2008, Okadaic acid increases autophagosomes in rat neurons: implications for Alzheimer's disease, J. Neurosci. Res., 86, 3230, 10.1002/jnr.21760 · DOI
  96. Yu, 2005, Macroautophagy–a novel Beta-amyloid peptide-generating pathway activated in Alzheimer's disease, J. Cell Biol., 171, 87, 10.1083/jcb.200505082 · DOI · Paper page
  97. Zhang, 1998, Synaptic vesicle size and number are regulated by a clathrin adaptor protein required for endocytosis, Neuron, 21, 1465, 10.1016/S0896-6273(00)80664-9 · DOI · Paper page
  98. Zhang, 2014, Clusterin facilitates stress-induced lipidation of LC3 and autophagosome biogenesis to enhance cancer cell survival, Nat. Commun., 5, 5775, 10.1038/ncomms6775 · DOI
  99. Zhu, 2013, Arctigenin effectively ameliorates memory impairment in Alzheimer's disease model mice targeting both beta-amyloid production and clearance, J. Neurosci.: Off. J. Soc. Neurosci., 33, 13138, 10.1523/JNEUROSCI.4790-12.2013 · DOI
  100. Zhuang, 2013, A BAR-domain protein SH3P2, which binds to phosphatidylinositol 3-phosphate and ATG8, regulates autophagosome formation in Arabidopsis, Plant Cell., 25, 4596, 10.1105/tpc.113.118307 · DOI

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Metadata

Authors
Yoon, S.-Y., & Kim, D.-H.
Venue
Brain Research
Publisher
Elsevier BV
Published
2016-10
Volume
1649
Pages
201-209
ISSN
0006-8993
Cited by
42
References
31
Language
en
Funders
Ministry of Science, ICT and Future Planning (2008-0062286)

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