Glucocerebrosidase and Parkinson disease: Recent advances

Molecular and Cellular Neuroscience

Volumn 66, Issue PA, 2015, Pages 37-42

  Schapira, A H V ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Alpha synuclein; Glucocerebrosidase; Lysosome; Neuroprotection; Parkinson disease

Indexed keywords

AMBROXOL; GLUCOSYLCERAMIDASE; NEUROPROTECTIVE AGENT;

CLINICAL FEATURE; CLINICAL GENETICS; ENDOPLASMIC RETICULUM; ENZYME ACTIVITY; GAUCHER DISEASE; GENE MUTATION; GENETIC RISK; HETEROZYGOTE; HOMOZYGOTE; HUMAN; NEUROCHEMISTRY; NEUROPROTECTION; NONHUMAN; PARKINSON DISEASE; PRIORITY JOURNAL; PSEUDOGENE; REVIEW; SUBSTANTIA NIGRA; UNFOLDED PROTEIN RESPONSE;

MUS;

EID: 84929703186     PISSN: 10447431     EISSN: 10959327     Source Type: Journal    
DOI: 10.1016/j.mcn.2015.03.013     Document Type: Review

References (71)

1. Aharon-Peretz J., Rosenbaum H., Gershoni-Baruch R. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N. Engl. J. Med. 2004, 351:1972-1977.
2. Alvarez-Erviti L., Rodriguez-Oroz M.C., Cooper J.M., Caballero C., Ferrer I., Obeso J.A., Schapira A.H. Chaperone-mediated autophagy markers in Parkinson disease brains. Arch. Neurol. 2010, 67:1464-1472.
3. Alvarez-Erviti L., Seow Y., Schapira A.H., Gardiner C., Sargent I.L., Wood M.J., Cooper J.M. Lysosomal dysfunction increases exosome-mediated alpha-synuclein release and transmission. Neurobiol. Dis. 2011, 42:360-367.
4. Angeli A., et al. Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation. Mov. Disord. 2013, 28:1370-1375.
5. Bae E.J., et al. Glucocerebrosidase depletion enhances cell-to-cell transmission of alpha-synuclein. Nat. Commun. 2014, 5:4755.
6. Beavan M.S., Schapira A.H. Glucocerebrosidase mutations and the pathogenesis of Parkinson disease. Ann. Med. 2013, 45:511-521.
7. Beavan M., McNeill A., Proukakis C., Hughes D.A., Mehta A., Schapira A.H. Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation-positive cohort. JAMA Neurol. 2015, 72:201-208.
8. Bendikov-Bar I., Maor G., Filocamo M., Horowitz M. Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase. Blood Cells Mol. Dis. 2013, 50:141-145.
9. Chung C.Y., et al. Identification and rescue of alpha-synuclein toxicity in Parkinson patient-derived neurons. Science 2013, 342:983-987.
10. Clark L.N., et al. Association of glucocerebrosidase mutations with dementia with Lewy bodies. Arch. Neurol. 2009, 66:578-583.
11. Cleeter M.W., Chau K.Y., Gluck C., Mehta A., Hughes D.A., Duchen M., Wood N.W., Hardy J., Mark Cooper J., Schapira A.H. Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage. Neurochem. Int. 2013, 62(1):1-7.
12. Cooper A.A., et al. Alpha-synuclein blocks ER-Golgi traffic and Rab1 rescues neuron loss in Parkinson's models. Science 2006, 313:324-328.
13. Cuervo A.M., Stefanis L., Fredenburg R., Lansbury P.T., Sulzer D. Impaired degradation of mutant alpha-synuclein by chaperone-mediated autophagy. Science 2004, 305:1292-1295.
14. Cullen V., et al. Acid beta-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter alpha-synuclein processing. Ann. Neurol. 2011, 69:940-953.
15. Dermentzaki G., Dimitriou E., Xilouri M., Michelakakis H., Stefanis L. Loss of beta-glucocerebrosidase activity does not affect alpha-synuclein levels or lysosomal function in neuronal cells. PLoS One 2013, 8:e60674.
16. Duran R., et al. The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease. Mov. Disord. 2013, 28:232-236.
17. Fishbein I., Kuo Y.M., Giasson B.I., Nussbaum R.L. Augmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutation. Brain 2014, 137:3235-3247.
18. Gegg M.E., Burke D., Heales S.J., Cooper J.M., Hardy J., Wood N.W., Schapira A.H. Glucocerebrosidase deficiency in substantia nigra of Parkinson disease brains. Ann. Neurol. 2012, 72:455-463.
19. Goker-Alpan O., Giasson B.I., Eblan M.J., Nguyen J., Hurtig H.I., Lee V.M., Trojanowski J.Q., Sidransky E. Glucocerebrosidase mutations are an important risk factor for Lewy body disorders. Neurology 2006, 67:908-910.
20. Goker-Alpan O., Lopez G., Vithayathil J., Davis J., Hallett M., Sidransky E. The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations. Arch. Neurol. 2008, 65:1353-1357.
21. Goker-Alpan O., Stubblefield B.K., Giasson B.I., Sidransky E. Glucocerebrosidase is present in alpha-synuclein inclusions in Lewy body disorders. Acta Neuropathol. 2010, 120:641-649.
22. Goker-Alpan O., et al. The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow. Brain 2012, 135:2440-2448.
23. Grabowski G.A. Phenotype, diagnosis, and treatment of Gaucher's disease. Lancet 2008, 372:1263-1271.
24. Horowitz M., Wilder S., Horowitz Z., Reiner O., Gelbart T., Beutler E. The human glucocerebrosidase gene and pseudogene: structure and evolution. Genomics 1989, 4:87-96.
25. Huang C.L., Wu-Chou Y.H., Lai S.C., Chang H.C., Yeh T.H., Weng Y.H., Chen R.S., Huang Y.Z., Lu C.S. Contribution of glucocerebrosidase mutation in a large cohort of sporadic Parkinson's disease in Taiwan. Eur. J. Neurol. 2011, 18:1227-1232.
26. Jamrozik Z., Lugowska A., Slawek J., Kwiecinski H. Glucocerebrosidase mutations p.L444P and p.N370S are not associated with multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration in Polish patients. J. Neurol. 2010, 257:459-460.
27. 2+ signals. J. Cell Sci. 2013, 126:60-66.
28. Kumar K.R., et al. Glucocerebrosidase mutations in a Serbian Parkinson's disease population. Eur. J. Neurol. 2013, 20:402-405.
29. Lesage S., et al. Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease. Hum. Mol. Genet. 2011, 20:202-210.
30. Lieberman R.L., D'aquino J.A., Ringe D., Petsko G.A. Effects of pH and iminosugar pharmacological chaperones on lysosomal glycosidase structure and stability. Biochemistry 2009, 48:4816-4827.
31. Lin M.K., Farrer M.J. Genetics and genomics of Parkinson's disease. Genome Med. 2014, 6:48.
32. Manning-Bog A.B., Schule B., Langston J.W. Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: a biological link between Gaucher disease and parkinsonism. Neurotoxicology 2009, 30:1127-1132.
33. Mata I.F., et al. Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. Arch. Neurol. 2008, 65:379-382.
34. Mazzulli J.R., Xu Y.H., Sun Y., Knight A.L., McLean P.J., Caldwell G.A., Sidransky E., Grabowski G.A., Krainc D. Gaucher disease glucocerebrosidase and alpha-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell 2011, 146:37-52.
35. McNeill A., Duran R., Hughes D.A., Mehta A., Schapira A.H. A clinical and family history study of Parkinson's disease in heterozygous glucocerebrosidase mutation carriers. J. Neurol. Neurosurg. Psychiatry 2012, 83:853-854.
36. McNeill A., Duran R., Proukakis C., Bras J., Hughes D., Mehta A., Hardy J., Wood N.W., Schapira A.H. Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Mov. Disord. 2012, 27:526-532.
37. McNeill A., Roberti G., Lascaratos G., Hughes D., Mehta A., Garway-Heath D.F., Schapira A.H. Retinal thinning in Gaucher disease patients and carriers: results of a pilot study. Mol. Genet. Metab. 2013, 109:221-223.
38. McNeill A., et al. Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis. PLoS One 2013, 8:e69190.
39. McNeill A., et al. Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells. Brain 2014, 137:1481-1495.
40. Mitsui J., et al. Mutations for Gaucher disease confer high susceptibility to Parkinson disease. Arch. Neurol. 2009, 66:571-576.
41. Mu T.W., Ong D.S., Wang Y.J., Balch W.E., Yates J.R., Segatori L., Kelly J.W. Chemical and biological approaches synergize to ameliorate protein-folding diseases. Cell 2008, 134:769-781.
42. Mullin S., Schapira A.H. Pathogenic mechanisms of neurodegeneration in Parkinson disease. Neurol. Clin. 2015, 33:1-17.
43. Murphy K.E., Gysbers A.M., Abbott S.K., Tayebi N., Kim W.S., Sidransky E., Cooper A., Garner B., Halliday G.M. Reduced glucocerebrosidase is associated with increased alpha-synuclein in sporadic Parkinson's disease. Brain 2014, 137:834-848.
44. Nalls M.A., et al. A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol. 2013, 70:727-735.
45. Nalls M.A., et al. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. Nat. Genet. 2014, 46:989-993.
46. Neumann J., et al. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain 2009, 132:1783-1794.
47. Olanow C.W., Schapira A.H. Therapeutic prospects for Parkinson disease. Ann. Neurol. 2013, 74:337-347.
48. Osellame L.D., Rahim A.A., Hargreaves I.P., Gegg M.E., Richard-Londt A., Brandner S., Waddington S.N., Schapira A.H., Duchen M.R. Mitochondria and quality control defects in a mouse model of Gaucher disease-links to Parkinson's disease. Cell Metab. 2013, 17:941-953.
49. Panicker L.M., et al. Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease. Proc. Natl. Acad. Sci. U. S. A. 2012, 109:18054-18059.
50. Parkkinen L., Neumann J., O'Sullivan S.S., Holton J.L., Revesz T., Hardy J., Lees A.J. Glucocerebrosidase mutations do not cause increased Lewy body pathology in Parkinson's disease. Mol. Genet. Metab. 2011, 103:410-412.
51. Rocha E.M., Smith G.A., Park E., Cao H., Brown E., Hallett P., Isacson O. Progressive decline of glucocerebrosidase in aging and Parkinson's disease. Ann. Clin. Transl. Neurol. 2015, 10.1002/acn3.177.
52. Ron I., Horowitz M. ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity. Hum. Mol. Genet. 2005, 14:2387-2398.
53. Sardi S.P., et al. CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy. Proc. Natl. Acad. Sci. U. S. A. 2011, 108:12101-12106.
54. Sardi S.P., et al. Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies. Proc. Natl. Acad. Sci. U. S. A. 2013, 110:3537-3542.
55. Schapira A.H. Calcium dysregulation in Parkinson's disease. Brain 2013, 136:2015-2016.
56. Schapira A.H., Gegg M.E. Glucocerebrosidase in the pathogenesis and treatment of Parkinson disease. Proc. Natl. Acad. Sci. U. S. A. 2013, 110:3214-3215.
57. Schapira A.H., Jenner P. Etiology and pathogenesis of Parkinson's disease. Mov. Disord. 2011, 26:1049-1055.
58. Schapira A.H., Olanow C.W., Greenamyre J.T., Bezard E. Slowing of neurodegeneration in Parkinson's disease and Huntington's disease: future therapeutic perspectives. Lancet 2014, 384:545-555.
59. Schondorf D.C., et al. iPSC-derived neurons from GBA1-associated Parkinson's disease patients show autophagic defects and impaired calcium homeostasis. Nat. Commun. 2014, 5:4028.
60. Segarane B., et al. Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy. Neurology 2009, 72:1185-1186.
61. Sidransky E., et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N. Engl. J. Med. 2009, 361:1651-1661.
62. Srulijes K., et al. No association of GBA mutations and multiple system atrophy. Eur. J. Neurol. 2013, 20:e61-e62.
63. Tayebi N., Callahan M., Madike V., Stubblefield B.K., Orvisky E., Krasnewich D., Fillano J.J., Sidransky E. Gaucher disease and parkinsonism: a phenotypic and genotypic characterization. Mol. Genet. Metab. 2001, 73:313-321.
64. Thayanidhi N., Helm J.R., Nycz D.C., Bentley M., Liang Y., Hay J.C. Alpha-synuclein delays endoplasmic reticulum (ER)-to-Golgi transport in mammalian cells by antagonizing ER/Golgi SNAREs. Mol. Biol. Cell 2010, 21:1850-1863.
65. Tofaris G.K. Lysosome-dependent pathways as a unifying theme in Parkinson's disease. Mov. Disord. 2012, 27:1364-1369.
66. Winder-Rhodes S.E., Evans J.R., Ban M., Mason S.L., Williams-Gray C.H., Foltynie T., Duran R., Mencacci N.E., Sawcer S.J., Barker R.A. Glucocerebrosidase mutations influence the natural history of Parkinson's disease in a community-based incident cohort. Brain 2013, 136:392-399.
67. Wong K., et al. Neuropathology provides clues to the pathophysiology of Gaucher disease. Mol. Genet. Metab. 2004, 82:192-207.
68. Yap T.L., Gruschus J.M., Velayati A., Westbroek W., Goldin E., Moaven N., Sidransky E., Lee J.C. Alpha-synuclein interacts with Glucocerebrosidase providing a molecular link between Parkinson and Gaucher diseases. J. Biol. Chem. 2011, 286:28080-28088.
69. Yap T.L., Velayati A., Sidransky E., Lee J.C. Membrane-bound alpha-synuclein interacts with glucocerebrosidase and inhibits enzyme activity. Mol. Genet. Metab. 2013, 108:56-64.
70. Ziegler S.G., Eblan M.J., Gutti U., Hruska K.S., Stubblefield B.K., Goker-Alpan O., LaMarca M.E., Sidransky E. Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease. Mol. Genet. Metab. 2007, 91:195-200.
71. Zokaei N., et al. Visual short-term memory deficits associated with GBA mutation and Parkinson's disease. Brain 2014, 137:2303-2311.