Mitochondria and quality control defects in a mouse model of gaucher disease - Links to parkinson's disease

Cell Metabolism

Volumn 17, Issue 6, 2013, Pages 941-953

  Osellame, Laura D ^a   Rahim, Ahad A ^a   Hargreaves, Iain P ^b   Gegg, Matthew E ^a,b   Richard Londt, Angela ^b   Brandner, Sebastian ^b   Waddington, Simon N ^a,c   Schapira, Anthony H V ^a,b   Duchen, Michael R ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY OF THE WITWATERSRAND   (South Africa)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SYNUCLEIN; BIOLOGICAL MARKER; GLUCOSYLCERAMIDASE; PROTEASOME; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; UBIQUITINATED PROTEIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; ASTROCYTE; AUTOPHAGY; CLINICAL FEATURE; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GAUCHER DISEASE; GENE MUTATION; GENETIC SUSCEPTIBILITY; HUMAN; LYSOSOME STORAGE DISEASE; MITOCHONDRION; MOUSE; NERVE DEGENERATION; NONHUMAN; PARKINSON DISEASE; PRIORITY JOURNAL; QUALITY CONTROL; RESPIRATORY CHAIN;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ALPHA-SYNUCLEIN; ANIMALS; ASTROCYTES; AUTOPHAGY; CELLS, CULTURED; DISEASE MODELS, ANIMAL; ELECTRON TRANSPORT; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HEAT-SHOCK PROTEINS; HUMANS; LYSOSOMES; MICE; MICE, KNOCKOUT; MITOCHONDRIA; MITOCHONDRIAL DISEASES; NEURONS; PARKINSON DISEASE;

EID: 84878811164     PISSN: 15504131     EISSN: 19327420     Source Type: Journal    
DOI: 10.1016/j.cmet.2013.04.014     Document Type: Article

References (52)

1. A.Y. Abramov, L. Canevari, and M.R. Duchen Beta-amyloid peptides induce mitochondrial dysfunction and oxidative stress in astrocytes and death of neurons through activation of NADPH oxidase J. Neurosci. 24 2004 565 575
2. M. Anheim, A. Elbaz, S. Lesage, A. Durr, C. Condroyer, F. Viallet, P. Pollak, B. Bonaïti, C. Bonaïti-Pellié, A. Brice French Parkinson Disease Genetic Group Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers Neurology 78 2012 417 420
3. J.P. Bolaños, A. Almeida, and S. Moncada Glycolysis: a bioenergetic or a survival pathway? Trends Biochem. Sci. 35 2010 145 149
4. V. Bonifati, P. Rizzu, M.J. van Baren, O. Schaap, G.J. Breedveld, E. Krieger, M.C. Dekker, F. Squitieri, P. Ibanez, and M. Joosse Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism Science 299 2003 256 259
5. J.L. Bradley, J.C. Blake, S. Chamberlain, P.K. Thomas, J.M. Cooper, and A.H. Schapira Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia Hum. Mol. Genet. 9 2000 275 282
6. R.O. Brady, J. Kanfer, and D. Shapiro The Metabolism of glucocerebrosides. I. Purification and properties of a glucocerebroside-cleaving enzyme from spleen tissue J. Biol. Chem. 240 1965 39 43
7. D.C. Chan Mitochondria: dynamic organelles in disease, aging, and development Cell 125 2006 1241 1252
8. H. Chen, J.M. McCaffery, and D.C. Chan Mitochondrial fusion protects against neurodegeneration in the cerebellum Cell 130 2007 548 562
9. M.W. Cleeter, K.Y. Chau, C. Gluck, A. Mehta, D.A. Hughes, M. Duchen, N.W. Wood, J. Hardy, J. Mark Cooper, and A.H. Schapira Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage Neurochem. Int. 62 2013 1 7
10. A.M. Cuervo, L. Stefanis, R. Fredenburg, P.T. Lansbury, and D. Sulzer Impaired degradation of mutant alpha-synuclein by chaperone-mediated autophagy Science 305 2004 1292 1295
11. P. del Hoyo, A. García-Redondo, F. de Bustos, J.A. Molina, Y. Sayed, H. Alonso-Navarro, L. Caballero, J. Arenas, J.A. Agúndez, and F.J. Jiménez-Jiménez Oxidative stress in skin fibroblasts cultures from patients with Parkinson's disease BMC Neurol. 10 2010 95 102
12. R. de Pablo-Latorre, A. Saide, E.V. Polishhuck, E. Nusco, A. Fraldi, and A. Ballabio Impaired parkin-mediated mitochondrial targeting to autophagosomes differentially contributes to tissue pathology in lysosomal storage diseases Hum. Mol. Genet. 21 2012 1770 1781
13. M.J. Elrick, T. Yu, C. Chung, and A.P. Lieberman Impaired proteolysis underlies autophagic dysfunction in Niemann-Pick type C disease Hum. Mol. Genet. 21 2012 4876 4887
14. I.B. Enquist, C. Lo Bianco, A. Ooka, E. Nilsson, J.E. Månsson, M. Ehinger, J. Richter, R.O. Brady, D. Kirik, and S. Karlsson Murine models of acute neuronopathic Gaucher disease Proc. Natl. Acad. Sci. USA 104 2007 17483 17488
15. S. Gandhi, A. Wood-Kaczmar, Z. Yao, H. Plun-Favreau, E. Deas, K. Klupsch, J. Downward, D.S. Latchman, S.J. Tabrizi, and N.W. Wood PINK1-associated Parkinson's disease is caused by neuronal vulnerability to calcium-induced cell death Mol. Cell 33 2009 627 638
16. M.E. Gegg, D. Burke, S.J. Heales, J.M. Cooper, J. Hardy, N.W. Wood, and A.H. Schapira Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains Ann. Neurol. 72 2012 455 463
17. G.A. Grabowski Phenotype, diagnosis, and treatment of Gaucher's disease Lancet 372 2008 1263 1271
18. R.H. Haas, F. Nasirian, K. Nakano, D. Ward, M. Pay, R. Hill, and C.W. Shults Low platelet mitochondrial complex I and complex II/III activity in early untreated Parkinson's disease Ann. Neurol. 37 1995 714 722
19. N. Ishihara, Y. Fujita, T. Oka, and K. Mihara Regulation of mitochondrial morphology through proteolytic cleavage of OPA1 EMBO J. 25 2006 2966 2977
20. J.J. Jennings Jr., J.H. Zhu, Y. Rbaibi, X. Luo, C.T. Chu, and K. Kiselyov Mitochondrial aberrations in mucolipidosis Type IV J. Biol. Chem. 281 2006 39041 39050
21. S.M. Jin, M. Lazarou, C. Wang, L.A. Kane, D.P. Narendra, and R.J. Youle Mitochondrial membrane potential regulates PINK1 import and proteolytic destabilization by PARL J. Cell Biol. 191 2010 933 942
22. G.F. Kelso, C.M. Porteous, C.V. Coulter, G. Hughes, W.K. Porteous, E.C. Ledgerwood, R.A. Smith, and M.P. Murphy Selective targeting of a redox-active ubiquinone to mitochondria within cells: antioxidant and antiapoptotic properties J. Biol. Chem. 276 2001 4588 4596
23. V.I. Korolchuk, A. Mansilla, F.M. Menzies, and D.C. Rubinsztein Autophagy inhibition compromises degradation of ubiquitin-proteasome pathway substrates Mol. Cell 33 2009 517 527
24. M. Lazarou, S.M. Jin, L.A. Kane, and R.J. Youle Role of PINK1 binding to the TOM complex and alternate intracellular membranes in recruitment and activation of the E3 ligase Parkin Dev. Cell 22 2012 320 333
25. S. Lesage, M. Anheim, C. Condroyer, P. Pollak, F. Durif, C. Dupuits, F. Viallet, E. Lohmann, J.C. Corvol, A. Honoré French Parkinson's Disease Genetics Study Group Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease Hum. Mol. Genet. 20 2011 202 210
26. M.T. Lin, and M.F. Beal Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases Nature 443 2006 787 795
27. I.F. Mata, A. Samii, S.H. Schneer, J.W. Roberts, A. Griffith, B.C. Leis, G.D. Schellenberg, E. Sidransky, T.D. Bird, and J.B. Leverenz Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders Arch. Neurol. 65 2008 379 382
28. J.R. Mazzulli, Y.H. Xu, Y. Sun, A.L. Knight, P.J. McLean, G.A. Caldwell, E. Sidransky, G.A. Grabowski, and D. Krainc Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies Cell 146 2011 37 52
29. J. Mitsui, I. Mizuta, A. Toyoda, R. Ashida, Y. Takahashi, J. Goto, Y. Fukuda, H. Date, A. Iwata, and M. Yamamoto Mutations for Gaucher disease confer high susceptibility to Parkinson disease Arch. Neurol. 66 2009 571 576
30. M.P. Murphy, and R.A. Smith Targeting antioxidants to mitochondria by conjugation to lipophilic cations Annu. Rev. Pharmacol. Toxicol. 47 2007 629 656
31. D. Narendra, A. Tanaka, D.F. Suen, and R.J. Youle Parkin is recruited selectively to impaired mitochondria and promotes their autophagy J. Cell Biol. 183 2008 795 803
32. J. Neumann, J. Bras, E. Deas, S.S. O'Sullivan, L. Parkkinen, R.H. Lachmann, A. Li, J. Holton, R. Guerreiro, and R. Paudel Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease Brain 132 2009 1783 1794
33. M.L. Oppenheim, I.P. Hargreaves, S. Pope, J.M. Land, and S.J. Heales Mitochondrial cytochrome c release: a factor to consider in mitochondrial disease? J. Inherit. Metab. Dis. 32 2009 269 273
34. L.D. Osellame, T.S. Blacker, and M.R. Duchen Cellular and molecular mechanisms of mitochondrial function Best Pract. Res. Clin. Endocrinol. Metab. 26 2012 711 723
35. C.S. Palmer, L.D. Osellame, D. Stojanovski, and M.T. Ryan The regulation of mitochondrial morphology: intricate mechanisms and dynamic machinery Cell. Signal. 23 2011 1534 1545
36. H. Plun-Favreau, K. Klupsch, N. Moisoi, S. Gandhi, S. Kjaer, D. Frith, K. Harvey, E. Deas, R.J. Harvey, and N. McDonald The mitochondrial protease HtrA2 is regulated by Parkinson's disease-associated kinase PINK1 Nat. Cell Biol. 9 2007 1243 1252
37. A.H. Schapira Mitochondrial dysfunction in Parkinson's disease Cell Death Differ. 14 2007 1261 1266
38. A.H. Schapira Complex I: inhibitors, inhibition and neurodegeneration Exp. Neurol. 224 2010 331 335
39. A.H. Schapira, and M.E. Gegg Glucocerebrosidase in the pathogenesis and treatment of Parkinson disease Proc. Natl. Acad. Sci. USA 110 2013 3214 3215
40. A.H. Schapira, J.M. Cooper, D. Dexter, J.B. Clark, P. Jenner, and C.D. Marsden Mitochondrial complex I deficiency in Parkinson's disease J. Neurochem. 54 1990 823 827
41. A.H. Schapira, V.M. Mann, J.M. Cooper, D. Dexter, S.E. Daniel, P. Jenner, J.B. Clark, and C.D. Marsden Anatomic and disease specificity of NADH CoQ1 reductase (complex I) deficiency in Parkinson's disease J. Neurochem. 55 1990 2142 2145
42. C. Settembre, A. Fraldi, L. Jahreiss, C. Spampanato, C. Venturi, D. Medina, R. de Pablo, C. Tacchetti, D.C. Rubinsztein, and A. Ballabio A block of autophagy in lysosomal storage disorders Hum. Mol. Genet. 17 2008 119 129
43. C. Settembre, A. Fraldi, D.C. Rubinsztein, and A. Ballabio Lysosomal storage diseases as disorders of autophagy Autophagy 4 2008 113 114
44. E. Sidransky, M.A. Nalls, J.O. Aasly, J. Aharon-Peretz, G. Annesi, E.R. Barbosa, A. Bar-Shira, D. Berg, J. Bras, and A. Brice Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease N. Engl. J. Med. 361 2009 1651 1661
45. Y. Sun, and G.A. Grabowski Impaired autophagosomes and lysosomes in neuronopathic Gaucher disease Autophagy 6 2010 648 649
46. N. Tayebi, M. Callahan, V. Madike, B.K. Stubblefield, E. Orvisky, D. Krasnewich, J.J. Fillano, and E. Sidransky Gaucher disease and parkinsonism: a phenotypic and genotypic characterization Mol. Genet. Metab. 73 2001 313 321
47. N. Tayebi, J. Walker, B. Stubblefield, E. Orvisky, M.E. LaMarca, K. Wong, H. Rosenbaum, R. Schiffmann, B. Bembi, and E. Sidransky Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? Mol. Genet. Metab. 79 2003 104 109
48. G. Twig, A. Elorza, A.J. Molina, H. Mohamed, J.D. Wikstrom, G. Walzer, L. Stiles, S.E. Haigh, S. Katz, and G. Las Fission and selective fusion govern mitochondrial segregation and elimination by autophagy EMBO J. 27 2008 433 446
49. E.M. Valente, P.M. Abou-Sleiman, V. Caputo, M.M. Muqit, K. Harvey, S. Gispert, Z. Ali, D. Del Turco, A.R. Bentivoglio, and D.G. Healy Hereditary early-onset Parkinson's disease caused by mutations in PINK1 Science 304 2004 1158 1160
50. J.L. Webb, B. Ravikumar, J. Atkins, J.N. Skepper, and D.C. Rubinsztein Alpha-Synuclein is degraded by both autophagy and the proteasome J. Biol. Chem. 278 2003 25009 25013
51. W. Westbroek, A.M. Gustafson, and E. Sidransky Exploring the link between glucocerebrosidase mutations and parkinsonism Trends Mol. Med. 17 2011 485 493
52. A. Wood-Kaczmar, S. Gandhi, Z. Yao, A.Y. Abramov, E.A. Miljan, G. Keen, L. Stanyer, I. Hargreaves, K. Klupsch, and E. Deas PINK1 is necessary for long term survival and mitochondrial function in human dopaminergic neurons PLoS ONE 3 2008 e2455 10.1371/journal.pone.0002455