Bridging the age spectrum of neurodegenerative storage diseases

Best Practice and Research: Clinical Endocrinology and Metabolism

Volumn 29, Issue 2, 2015, Pages 127-143

  Boland, Barry ^a   Platt, Frances M ^b  

^a UNIVERSITY COLLEGE CORK   (Ireland)

^b UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Alzheimer's disease; amyloid; autophagy; endosome; exocytosis; glycosphingolipid; lysosomal storage disease; lysosome; neurodegeneration; Niemann Pick disease

Indexed keywords

AGING; ALZHEIMER DISEASE; AUTOPHAGY; CATABOLISM; CELL STRESS; DEGENERATIVE DISEASE; ENDOSOME; EPIGENETICS; EXOCYTOSIS; HUMAN; HUNTINGTON CHOREA; LYSOSOME; LYSOSOME STORAGE DISEASE; PARKINSON DISEASE; PATHOGENESIS; REVIEW; SYMPTOMATOLOGY; AGE; BRAIN; METABOLISM;

AGE FACTORS; ALZHEIMER DISEASE; AUTOPHAGY; BRAIN; ENDOSOMES; EXOCYTOSIS; HUMANS; LYSOSOMAL STORAGE DISEASES; LYSOSOMES; NEURODEGENERATIVE DISEASES; PARKINSON DISEASE;

EID: 84929518772     PISSN: 1521690X     EISSN: 15321908     Source Type: Journal    
DOI: 10.1016/j.beem.2014.08.009     Document Type: Review

References (121)

1. P.J. Meikle, E. Ranieri, and E.M. Ravenscroft Newborn screening for lysosomal storage disorders Southeast Asian J Trop Med Public Health 30 Suppl. 2 1999 104 110
2. H. Poupetova, J. Ledvinova, and L. Berna The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations J Inherit Metab Dis 33 4 2010 387 396
3. P. Saftig, and J. Klumperman Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function Nat Rev Mol Cell Biol 10 9 2009 623 635
4. L. Liscum, and S.L. Sturley Intracellular trafficking of Niemann-Pick C proteins 1 and 2: obligate components of subcellular lipid transport Biochim Biophys Acta 1685 1-3 2004 22 27
5. C. Heine, B. Koch, and S. Storch Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A J Biol Chem 279 21 2004 22347 22352
6. E. Boadu, and G.A. Francis The role of vesicular transport in ABCA1-dependent lipid efflux and its connection with NPC pathways J Mol Med 84 4 2006 266 275
7. M. Van Gele, P. Dynoodt, and J. Lambert Griscelli syndrome: a model system to study vesicular trafficking Pigment Cell Melanoma Res 22 3 2009 268 282
8. C. Huynh, D. Roth, and D.M. Ward Defective lysosomal exocytosis and plasma membrane repair in Chediak-Higashi/beige cells Proc Natl Acad Sci U S A 101 48 2004 16795 16800
9. C. Tam, V. Idone, and C. Devlin Exocytosis of acid sphingomyelinase by wounded cells promotes endocytosis and plasma membrane repair J Cell Biol 189 6 2010 1027 1038
10. J. Neefjes, and R. van der Kant Stuck in traffic: an emerging theme in diseases of the nervous system Trends Neurosci 37 2 2014 66 76
11. R.A. Nixon, D.S. Yang, and J.H. Lee Neurodegenerative lysosomal disorders: a continuum from development to late age Autophagy 4 5 2008 590 599
12. J.P. Luzio, P.R. Pryor, and N.A. Bright Lysosomes: fusion and function Nat Rev Mol Cell Biol 8 8 2007 622 632
13. J.P. Luzio, S.R. Gray, and N.A. Bright Endosome-lysosome fusion Biochem Soc Trans 38 6 2010 1413 1416
14. Y. Ihara, M. Morishima-Kawashima, and R. Nixon The ubiquitin-proteasome system and the autophagic-lysosomal system in Alzheimer disease Cold Spring Harb Perspect Med 2 8 2012
15. G. van Meer, D.R. Voelker, and G.W. Feigenson Membrane lipids: where they are and how they behave Nat Rev Mol Cell Biol 9 2 2008 112 124
16. Y.S. Sou, I. Tanida, and M. Komatsu Phosphatidylserine in addition to phosphatidylethanolamine is an in vitro target of the mammalian Atg8 modifiers, LC3, GABARAP, and GATE-16 J Biol Chem 281 6 2006 3017 3024
17. T. Kobayashi, K. Startchev, and A.J. Whitney Localization of lysobisphosphatidic acid-rich membrane domains in late endosomes Biol Chem 382 3 2001 483 485
18. S. Locatelli-Hoops, N. Remmel, and R. Klingenstein Saposin A mobilizes lipids from low cholesterol and high bis(monoacylglycerol)phosphate-containing membranes: patient variant Saposin A lacks lipid extraction capacity J Biol Chem 281 43 2006 32451 32460
19. M. Abdul-Hammed, B. Breiden, and M.A. Adebayo Role of endosomal membrane lipids and NPC2 in cholesterol transfer and membrane fusion J Lipid Res 51 7 2010 1747 1760
20. F. Panza, G. Logroscino, and B.P. Imbimbo Is there still any hope for amyloid-based immunotherapy for Alzheimer's disease? Curr Opin Psychiatry 27 2 2014 128 137
21. M. Komatsu, S. Waguri, and T. Ueno Impairment of starvation-induced and constitutive autophagy in Atg7-deficient mice J Cell Biol 169 3 2005 425 434
22. A. Kuma, M. Hatano, and M. Matsui The role of autophagy during the early neonatal starvation period Nature 432 7020 2004 1032 1036
23. T. Hara, K. Nakamura, and M. Matsui Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice Nature 441 7095 2006 885 889
24. B. Boland, and R.A. Nixon Neuronal macroautophagy: from development to degeneration Mol Aspects Med 27 5-6 2006 503 519
25. Y. Tanaka, G. Guhde, and A. Suter Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice Nature 406 6798 2000 902 906
26. B. Boland, A. Kumar, and S. Lee Autophagy induction and autophagosome clearance in neurons: relationship to autophagic pathology in Alzheimer's disease J Neurosci 28 27 2008 6926 6937
27. G.K. Gouras Convergence of synapses, endosomes, and prions in the biology of neurodegenerative diseases Int J Cell Biol 2013 2013 141083
28. R.A. Nixon, J. Wegiel, and A. Kumar Extensive involvement of autophagy in Alzheimer disease: an immuno-electron microscopy study J Neuropathol Exp Neurol 64 2 2005 113 122
29. R.H. Takahashi, C.G. Almeida, and P.F. Kearney Oligomerization of Alzheimer's beta-amyloid within processes and synapses of cultured neurons and brain J Neurosci 24 14 2004 3592 3599
30. Y. Wang, M. Martinez-Vicente, and U. Kruger Tau fragmentation, aggregation and clearance: the dual role of lysosomal processing Hum Mol Genet 18 21 2009 4153 4170
31. Y. Jiang, K.A. Mullaney, and C.M. Peterhoff Alzheimer's-related endosome dysfunction in down syndrome is Abeta-independent but requires APP and is reversed by BACE-1 inhibition Proc Natl Acad Sci U S A 107 4 2010 1630 1635
32. J.H. Choi, G. Kaur, and M.J. Mazzella Early endosomal abnormalities and cholinergic neuron degeneration in amyloid-beta protein precursor transgenic mice J Alzheimer's Dis 34 3 2013 691 700
33. J.M. Aerts, J.E. Groener, and S. Kuiper Elevated globotriaosylsphingosine is a hallmark of Fabry disease Proc Natl Acad Sci U S A 105 8 2008 2812 2817
34. K. Suzuki Twenty five years of the "psychosine hypothesis": a personal perspective of its history and present status Neurochem Res 23 3 1998 251 259
35. E.B. Vitner, F.M. Platt, and A.H. Futerman Common and uncommon pathogenic cascades in lysosomal storage diseases J Biol Chem 285 27 2010 20423 20427
36. D.S. Im, C.E. Heise, and T. Nguyen Identification of a molecular target of psychosine and its role in globoid cell formation J Cell Biol 153 2 2001 429 434
37. E.B. Vitner, R. Salomon, and T. Farfel-Becker RIPK3 as a potential therapeutic target for Gaucher's disease Nat Med 20 2 2014 204 208
38. J. Tohyama, J. Matsuda, and K. Suzuki Psychosine is as potent an inducer of cell death as C6-ceramide in cultured fibroblasts and in MOCH-1 cells Neurochem Res 26 6 2001 667 671
39. K. Simons, and J. Gruenberg Jamming the endosomal system: lipid rafts and lysosomal storage diseases Trends Cell Biol 10 11 2000 459 462
40. D. te Vruchte, E. Lloyd-Evans, and R.J. Veldman Accumulation of glycosphingolipids in Niemann-Pick C disease disrupts endosomal transport J Biol Chem 279 25 2004 26167 26175
41. D. te Vruchte, A. Jeans, and F.M. Platt Glycosphingolipid storage leads to the enhanced degradation of the B cell receptor in Sandhoff disease mice J Inherit Metab Dis 33 3 2010 261 270
42. R.E. Pagano, and C.S. Chen Use of BODIPY-labeled sphingolipids to study membrane traffic along the endocytic pathway Ann N Y Acad Sci 845 1998 152 160
43. R.E. Pagano, V. Puri, and M. Dominguez Membrane traffic in sphingolipid storage diseases Traffic 1 11 2000 807 815
44. Y.H. Hung, N.G. Faux, and D.W. Killilea Altered transition metal homeostasis in Niemann-Pick disease, type C1 Metallomics 6 3 2014 542 553
45. M. Jeyakumar, I. Williams, and D. Smith Critical role of iron in the pathogenesis of the murine gangliosidoses Neurobiol Dis 34 3 2009 406 416
46. N.C. Berchtold, and C.W. Cotman Evolution in the conceptualization of dementia and Alzheimer's disease: Greco-Roman period to the 1960s Neurobiol Aging 19 3 1998 173 189
47. S. Ovallath, and P. Deepa The history of parkinsonism: descriptions in ancient Indian medical literature Mov Disord 28 5 2013 566 568
48. A. Mehta, M. Beck, and A. Linhart History of lysosomal storage diseases: an overview A. Mehta, M. Beck, G. Sunder-Plassmann, Fabry disease 2006 Perspectives from 5 Years of FOS Oxford
49. C. De Duve, B.C. Pressman, and R. Gianetto Tissue fractionation studies. 6. Intracellular distribution patterns of enzymes in rat-liver tissue Biochem J 60 4 1955 604 617
50. V. Garcia-Marin, P. Garcia-Lopez, and M. Freire Cajal's contributions to the study of Alzheimer's disease J Alzheimer's Dis 12 2 2007 161 174
51. E. Kraepelin Das senile und prasenile Irresein. Psychiatrie: Ein Lehrbuch fur Studierende und Arzte 1910 Johann Ambrosius Barth Leipzig 533 632
52. S.U. Walkley, and K. Suzuki Consequences of NPC1 and NPC2 loss of function in mammalian neurons Biochim Biophys Acta 1685 1-3 2004 48 62
53. J. Rapola Lysosomal storage diseases in adults Pathol Res Pract 190 8 1994 759 766
54. E. Conzelmann, and K. Sandhoff Biochemical basis of late-onset neurolipidoses Dev Neurosci 13 4-5 1991 197 204
55. M. Biegstraaten, I.N. van Schaik, and J.M. Aerts A monozygotic twin pair with highly discordant Gaucher phenotypes Blood Cells Mol Dis 46 1 2011 39 41
56. R.H. Lachmann, I.R. Grant, and D. Halsall Twin pairs showing discordance of phenotype in adult Gaucher's disease QJM 97 4 2004 199 204
57. O. Goker-Alpan, K.S. Hruska, and E. Orvisky Divergent phenotypes in Gaucher disease implicate the role of modifiers J Med Genet 42 6 2005 e37
58. E.L. Koedam, V. Lauffer, and A.E. van der Vlies Early-versus late-onset Alzheimer's disease: more than age alone J Alzheimer's Dis 19 4 2010 1401 1408
59. U. Muller, P. Winter, and M.B. Graeber A presenilin 1 mutation in the first case of Alzheimer's disease Lancet Neurol 12 2 2013 129 130
60. J.H. Lee, W.H. Yu, and A. Kumar Lysosomal proteolysis and autophagy require presenilin 1 and are disrupted by Alzheimer-related PS1 mutations Cell 141 7 2010 1146 1158
61. K. Coen, R.S. Flannagan, and S. Baron Lysosomal calcium homeostasis defects, not proton pump defects, cause endo-lysosomal dysfunction in PSEN-deficient cells J Cell Biol 198 1 2012 23 35
62. A.M. Cataldo, S. Petanceska, and C.M. Peterhoff App gene dosage modulates endosomal abnormalities of Alzheimer's disease in a segmental trisomy 16 mouse model of down syndrome J Neurosci 23 17 2003 6788 6792
63. M. Perluigi, G. Pupo, and A. Tramutola Neuropathological role of PI3K/Akt/mTOR axis in down syndrome brain Biochim Biophys Acta 1842 7 2014 1144 1153
64. M.C. Chartier-Harlin, M. Parfitt, and S. Legrain Apolipoprotein E, epsilon 4 allele as a major risk factor for sporadic early and late-onset forms of Alzheimer's disease: analysis of the 19q13.2 chromosomal region Hum Mol Genet 3 4 1994 569 574
65. T. Kanekiyo, H. Xu, and G. Bu ApoE and Abeta in Alzheimer's disease: accidental encounters or partners? Neuron 81 4 2014 740 754
66. E. Rogaeva, Y. Meng, and J.H. Lee The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease Nat Genet 39 2 2007 168 177
67. A.S. Carlo, C. Gustafsen, and G. Mastrobuoni The pro-neurotrophin receptor sortilin is a major neuronal apolipoprotein E receptor for catabolism of amyloid-beta peptide in the brain J Neurosci 33 1 2013 358 370
68. S. Seshadri, A.L. Fitzpatrick, and M.A. Ikram Genome-wide analysis of genetic loci associated with Alzheimer disease JAMA 303 18 2010 1832 1840
69. P. Hollingworth, D. Harold, and R. Sims Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease Nat Genet 43 5 2011 429 435
70. A.S. Khachaturian, C.D. Corcoran, and L.S. Mayer Apolipoprotein E epsilon4 count affects age at onset of Alzheimer disease, but not lifetime susceptibility: the cache county study Arch Gen Psychiatry 61 5 2004 518 524
71. P. Anglade, S. Vyas, and F. Javoy-Agid Apoptosis and autophagy in nigral neurons of patients with Parkinson's disease Histol Histopathol 12 1 1997 25 31
72. J.H. Zhu, F. Guo, and J. Shelburne Localization of phosphorylated ERK/MAP kinases to mitochondria and autophagosomes in lewy body diseases Brain Pathol 13 4 2003 473 481
73. Y. Chu, H. Dodiya, and P. Aebischer Alterations in lysosomal and proteasomal markers in Parkinson's disease: relationship to alpha-synuclein inclusions Neurobiol Dis 35 3 2009 385 398
74. B. Dehay, J. Bove, and N. Rodriguez-Muela Pathogenic lysosomal depletion in Parkinson's disease J Neurosci 30 37 2010 12535 12544
75. B. Dehay, M. Martinez-Vicente, and G.A. Caldwell Lysosomal impairment in Parkinson's disease Mov Disord 28 6 2013 725 732
76. L. Alvarez-Erviti, M.C. Rodriguez-Oroz, and J.M. Cooper Chaperone-mediated autophagy markers in Parkinson disease brains Arch Neurol 67 12 2010 1464 1472
77. A. Sanchez-Danes, Y. Richaud-Patin, and I. Carballo-Carbajal Disease-specific phenotypes in dopamine neurons from human iPS-based models of genetic and sporadic Parkinson's disease EMBO Mol Med 4 5 2012 380 395
78. J.C. Rochet, B.A. Hay, and M. Guo Molecular insights into Parkinson's disease Prog Mol Biol Transl Sci 107 2012 125 188
79. M. Vila, J. Bove, and B. Dehay Lysosomal membrane permeabilization in Parkinson disease Autophagy 7 1 2011 98 100
80. J. Bove, M. Martinez-Vicente, and M. Vila Fighting neurodegeneration with rapamycin: mechanistic insights Nat Rev Neurosci 12 8 2011 437 452
81. E. Sidransky, M.A. Nalls, and J.O. Aasly Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease N Engl J Med 361 17 2009 1651 1661
82. I. Ron, and M. Horowitz ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity Hum Mol Genet 14 16 2005 2387 2398
83. J.R. Mazzulli, Y.H. Xu, and Y. Sun Gaucher disease glucocerebrosidase and alpha-synuclein form a bidirectional pathogenic loop in synucleinopathies Cell 146 1 2011 37 52
84. A.R. Winslow, C.W. Chen, and S. Corrochano alpha-Synuclein impairs macroautophagy: implications for Parkinson's disease J Cell Biol 190 6 2010 1023 1037
85. L. Crews, B. Spencer, and P. Desplats Selective molecular alterations in the autophagy pathway in patients with Lewy body disease and in models of alpha-synucleinopathy PLoS One 5 2 2010 e9313
86. W.H. Yu, B. Dorado, and H.Y. Figueroa Metabolic activity determines efficacy of macroautophagic clearance of pathological oligomeric alpha-synuclein Am J Pathol 175 2 2009 736 747
87. S.A. Tanik, C.E. Schultheiss, and L.A. Volpicelli-Daley Lewy body-like alpha-synuclein aggregates resist degradation and impair macroautophagy J Biol Chem 288 21 2013 15194 15210
88. Y. Tong, E. Giaime, and H. Yamaguchi Loss of leucine-rich repeat kinase 2 causes age-dependent bi-phasic alterations of the autophagy pathway Mol Neurodegener 7 2 2012
89. E.D. Plowey, S.J. Cherra 3rd, and Y.J. Liu Role of autophagy in G2019S-LRRK2-associated neurite shortening in differentiated SH-SY5Y cells J Neurochem 105 3 2008 1048 1056
90. I.E. Clark, M.W. Dodson, and C. Jiang Drosophila pink1 is required for mitochondrial function and interacts genetically with parkin Nature 441 7097 2006 1162 1166
91. N.C. Chan, A.M. Salazar, and A.H. Pham Broad activation of the ubiquitin-proteasome system by Parkin is critical for mitophagy Hum Mol Genet 20 9 2011 1726 1737
92. A. Di Fonzo, H.F. Chien, and M. Socal ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease Neurology 68 19 2007 1557 1562
93. J.S. Park, P. Mehta, and A.A. Cooper Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism Hum Mutat 32 8 2011 956 964
94. A. Ramirez, A. Heimbach, and J. Grundemann Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase Nat Genet 38 10 2006 1184 1191
95. J.P. Caviston, and E.L. Holzbaur Huntingtin as an essential integrator of intracellular vesicular trafficking Trends Cell Biol 19 4 2009 147 155
96. M.A. Nance, V. Mathias-Hagen, and G. Breningstall Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington's disease Neurology 52 2 1999 392 394
97. A. Terman, and U.T. Brunk Aging as a catabolic malfunction Int J Biochem Cell Biol 36 12 2004 2365 2375
98. J.C. Breitner What should we do if we were wrong and Alzheimer was right? Int Psychogeriatr 26 1 2014 3 6
99. S.M. Southwick, and D.S. Charney The science of resilience: implications for the prevention and treatment of depression Science 338 6103 2012 79 82
100. T. Lu, L. Aron, and J. Zullo REST and stress resistance in ageing and Alzheimer's disease Nature 507 7493 2014 448 454
101. R.O. Brady Enzyme replacement for lysosomal diseases Annu Rev Med 57 2006 283 296
102. J. Niu, B. Zhang, and H. Chen Applications of TALENs and CRISPR/Cas9 in human cells and their potentials for gene therapy Mol Biotechnol 56 8 2014 681 688
103. F.M. Platt, and M. Jeyakumar Substrate reduction therapy Acta Paediatr 97 457 2008 88 93
104. J. Matsuda, O. Suzuki, and A. Oshima Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis Proc Natl Acad Sci U S A 100 26 2003 15912 15917
105. J.Q. Fan A contradictory treatment for lysosomal storage disorders: inhibitors enhance mutant enzyme activity Trends Pharmacol Sci 24 7 2003 355 360
106. F.M. Platt, G.R. Neises, and R.A. Dwek N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis J Biol Chem 269 11 1994 8362 8365
107. R.H. Lachmann Miglustat: substrate reduction therapy for glycosphingolipid lysosomal storage disorders Drugs Today 42 1 2006 29 38
108. K.A. Lyseng-Williamson Miglustat: a review of its use in niemann-pick disease type C Drugs 74 1 2014 61 74
109. G. Sanchez-Olle, J. Duque, and M. Egido-Gabas Promising results of the chaperone effect caused by imino sugars and aminocyclitol derivatives on mutant glucocerebrosidases causing Gaucher disease Blood Cells Mol Dis 42 2 2009 159 166
110. G.M. Pastores, and S. Sathe A chaperone-mediated approach to enzyme enhancement as a therapeutic option for the lysosomal storage disorders Drugs R D 7 6 2006 339 348
111. M.D. Ledesma, and C.G. Dotti Peripheral cholesterol, metabolic disorders and Alzheimer's disease Front Biosci Elite Ed 4 2012 181 194
112. N. Oikawa, H. Yamaguchi, and K. Ogino Gangliosides determine the amyloid pathology of Alzheimer's disease Neuroreport 20 12 2009 1043 1046
113. H. Hayashi, N. Kimura, and H. Yamaguchi A seed for Alzheimer amyloid in the brain J Neurosci 24 20 2004 4894 4902
114. D.C. Schondorf, M. Aureli, and F.E. McAllister iPSC-derived neurons from GBA1-associated Parkinson's disease patients show autophagic defects and impaired calcium homeostasis Nat Commun 5 2014 4028
115. W. Shen, A.G. Henry, and K.L. Paumier Inhibition of glucosylceramide synthase stimulates autophagy flux in neurons J Neurochem 129 5 2014 884 894
116. D.C. Rubinsztein, G. Marino, and G. Kroemer Autophagy and aging Cell 146 5 2011 682 695
117. M. Sardiello, M. Palmieri, and A. di Ronza A gene network regulating lysosomal biogenesis and function Science 325 5939 2009 473 477
118. D.L. Medina, A. Fraldi, and V. Bouche Transcriptional activation of lysosomal exocytosis promotes cellular clearance Dev Cell 21 3 2011 421 430
119. C. Zhang, and A.M. Cuervo Restoration of chaperone-mediated autophagy in aging liver improves cellular maintenance and hepatic function Nat Med 14 9 2008 959 965
120. A.P. Gomes, N.L. Price, and A.J. Ling Declining NAD(+) induces a pseudohypoxic state disrupting nuclear-mitochondrial communication during aging Cell 155 7 2013 1624 1638
121. K. Brockmann, C. Schulte, and A.K. Hauser SNCA: major genetic modifier of age at onset of Parkinson's disease Mov Disord 28 9 2013 1217 1221