Cerebrospinal fluid β-glucocerebrosidase activity is reduced in parkinson's disease patients

Movement Disorders

Volumn 32, Issue 10, 2017, Pages 1423-1431

  Parnetti, Lucilla ^a   Paciotti, Silvia ^a   Eusebi, Paolo ^a   Dardis, Andrea ^b   Zampieri, Stefania ^b   Chiasserini, Davide ^a   Tasegian, Anna ^a   Tambasco, Nicola ^a   Bembi, Bruno ^b   Calabresi, Paolo ^a   Beccari, Tommaso ^a  

^a UNIVERSITY OF PERUGIA   (Italy)

^b SANTA MARIA DELLA MISERICORDIA UNIVERSITY HOSPITAL   (Italy)

Author keywords

CSF biomarkers; GBA1 gene; lysosomal enzyme activity; Parkinson's disease; glucocerebrosidase

Indexed keywords

AMANTADINE; BETA N ACETYLHEXOSAMINIDASE; BIOLOGICAL MARKER; CATHEPSIN D; DOPAMINE RECEPTOR STIMULATING AGENT; GLUCOSYLCERAMIDASE; HEMOGLOBIN; LEVODOPA; LYSOSOME ENZYME; ALPHA SYNUCLEIN; AMYLOID BETA PROTEIN; AMYLOID BETA-PROTEIN (1-42); PEPTIDE FRAGMENT; TAU PROTEIN;

AGED; ARTICLE; CEREBROSPINAL FLUID; CONTROLLED STUDY; CROSS-SECTIONAL STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; DIAGNOSTIC VALUE; DISEASE ASSOCIATION; ENZYME ACTIVITY; FEMALE; GBA1 GENE; GENE; GENE MUTATION; GENE SEQUENCE; HEMOGLOBIN DETERMINATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR DIAGNOSIS; PARKINSON DISEASE; PRIORITY JOURNAL; PROTEIN CEREBROSPINAL FLUID LEVEL; RECEIVER OPERATING CHARACTERISTIC; SENSITIVITY AND SPECIFICITY; GENETICS; LYSOSOME; METABOLISM; MIDDLE AGED; MUTATION; STATISTICS;

AGED; ALPHA-SYNUCLEIN; AMYLOID BETA-PEPTIDES; BETA-N-ACETYLHEXOSAMINIDASES; CATHEPSIN D; FEMALE; GLUCOSYLCERAMIDASE; HUMANS; LYSOSOMES; MALE; MIDDLE AGED; MUTATION; PARKINSON DISEASE; PEPTIDE FRAGMENTS; ROC CURVE; STATISTICS AS TOPIC; TAU PROTEINS;

EID: 85028335467     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.27136     Document Type: Article

References (42)

1. Chu Y, Dodiya H, Aebischer P, Olanow CW, Kordower JH. Alterations in lysosomal and proteasomal markers in Parkinson's disease: relationship to alpha-synuclein inclusions. Neurobiol Dis 2009;35(3):385-398.
2. Sidransky E, Nalls MA, Aasly JO, et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med 2009;361(17):1651-1661.
3. Schapira AH, Chiasserini D, Beccari T, Parnetti L. Glucocerebrosidase in Parkinson's disease: Insights into pathogenesis and prospects for treatment. Mov Disord 2016;31(6):830-835.
4. Chiasserini D, Paciotti S, Eusebi P, et al. Selective loss of glucocerebrosidase activity in sporadic Parkinson's disease and dementia with Lewy bodies. Mol Neurodegener 2015;10:15.
5. Bae EJ, Yang NY, Lee C, et al. Loss of glucocerebrosidase 1 activity causes lysosomal dysfunction and alpha-synuclein aggregation. Exp Mol Med 2015;47:e188.
6. Schondorf DC, Aureli M, McAllister FE, et al. iPSC-derived neurons from GBA1-associated Parkinson's disease patients show autophagic defects and impaired calcium homeostasis. Nat Commun 2014;5:4028.
7. Bae EJ, Yang NY, Lee C, Kim S, Lee HJ, Lee SJ. Haploinsufficiency of cathepsin D leads to lysosomal dysfunction and promotes cell-to-cell transmission of alpha-synuclein aggregates. Cell Death Dis 2015;6:e1901.
8. Cullen V, Lindfors M, Ng J, et al. Cathepsin D expression level affects alpha-synuclein processing, aggregation, and toxicity in vivo. Mol Brain 2009;2:5.
9. Suzuki K, Iseki E, Katsuse O, et al. Neuronal accumulation of alpha- and beta-synucleins in the brain of a GM2 gangliosidosis mouse model. Neuroreport 2003;14(4):551-554.
10. Balducci C, Pierguidi L, Persichetti E, et al. Lysosomal hydrolases in cerebrospinal fluid from subjects with Parkinson's disease. Mov Disord 2007;22(10):1481-1484.
11. Parnetti L, Chiasserini D, Persichetti E, et al. Cerebrospinal fluid lysosomal enzymes and alpha-synuclein in Parkinson's disease. Mov Disord 2014;29(8):1019-1027.
12. Kang UJ, Goldman JG, Alcalay RN, et al. The BioFIND study: Characteristics of a clinically typical Parkinson's disease biomarker cohort. Mov Disord 2016;31(6):924-932.
13. Persichetti E, Chiasserini D, Parnetti L, et al. Factors influencing the measurement of lysosomal enzymes activity in human cerebrospinal fluid. PLoS One 2014;9(7):e101453.
14. Alfonso P, Pampin S, Garcia-Rodriguez B, et al. Characterization of the c.(-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease. Clin Chim Acta 2011;412(3-4):365-369.
15. Parnetti L, Balducci C, Pierguidi L, et al. Cerebrospinal fluid beta-glucocerebrosidase activity is reduced in Dementia with Lewy Bodies. Neurobiol Dis 2009;34(3):484-486.
16. Horowitz M, Pasmanik-Chor M, Ron I, Kolodny EH. The enigma of the E326K mutation in acid beta-glucocerebrosidase. Mol Genet Metab 2011;104(1-2):35-38.
17. Hodanova K, Melkova Z, Horowitz M, Hrebicek M. Transient expression of wild-type and mutant glucocerebrosidases in hybrid vaccinia expression system. Eur J Hum Genet 2003;11(5):369-374.
18. Paciotti S, Persichetti E, Pagliardini S, et al. First pilot newborn screening for four lysosomal storage diseases in an Italian region: identification and analysis of a putative causative mutation in the GBA gene. Clin Chim Acta 2012;413(23-24):1827-1831.
19. Hodanova K, Hrebicek M, Cervenkova M, Mrazova L, Veprekova L, Zemen J. Analysis of the beta-glucocerebrosidase gene in Czech and Slovak Gaucher patients: mutation profile and description of six novel mutant alleles. Blood Cells Mol Dis 1999;25(5-6):287-298.
20. Grace ME, Newman KM, Scheinker V, Berg-Fussman A, Grabowski GA. Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression. J Biol Chem 1994;269(3):2283-2291.
21. Santamaria R, Michelakakis H, Moraitou M, et al. Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele. Hum Mutat 2008;29(6):E58-E67.
22. Miocic S, Filocamo M, Dominissini S, et al. Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1. Hum Mutat 2005;25(1):100.
23. Malini E, Grossi S, Deganuto M, et al. Functional analysis of 11 novel GBA alleles. Eur J Hum Genet 2014;22(4):511-516.
24. Duran R, Mencacci NE, Angeli AV, et al. The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease. Mov Disord 2013;28(2):232-236.
25. Pankratz N, Beecham GW, DeStefano AL, et al. Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. Ann Neurol 2012;71(3):370-384.
26. Yap TL, Gruschus JM, Velayati A, Sidransky E, Lee JC. Saposin C protects glucocerebrosidase against alpha-synuclein inhibition. Biochemistry 2013;52(41):7161-7163.
27. Sun Y, Qi X, Grabowski GA. Saposin C is required for normal resistance of acid beta-glucosidase to proteolytic degradation. J Biol Chem 2003;278(34):31918-31923.
28. Yap TL, Velayati A, Sidransky E, Lee JC. Membrane-bound alpha-synuclein interacts with glucocerebrosidase and inhibits enzyme activity. Mol Genet Metab 2013;108(1):56-64.
29. Yuan L, Morales CR. Prosaposin sorting is mediated by oligomerization. Exp Cell Res 2011;317(17):2456-2467.
30. Wooten GF, Currie LJ, Bovbjerg VE, Lee JK, Patrie J. Are men at greater risk for Parkinson's disease than women? J Neurol Neurosurg Psychiatry 2004;75(4):637-639.
31. Davis MY, Johnson CO, Leverenz JB, et al. Association of GBA Mutations and the E326K Polymorphism With Motor and Cognitive Progression in Parkinson Disease. JAMA Neurol 2016;73(10):1217-1224.
32. Brockmann K, Srulijes K, Pflederer S, et al. GBA-associated Parkinson's disease: reduced survival and more rapid progression in a prospective longitudinal study. Mov Disord 2015;30(3):407-411.
33. Cilia R, Tunesi S, Marotta G, et al. Survival and dementia in GBA-associated Parkinson's disease: The mutation matters. Ann Neurol 2016;80(5):662-673.
34. Liu G, Boot B, Locascio JJ, et al. Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's. Ann Neurol 2016;80(5):674-685.
35. Sevlever D, Jiang P, Yen SH. Cathepsin D is the main lysosomal enzyme involved in the degradation of alpha-synuclein and generation of its carboxy-terminally truncated species. Biochemistry 2008;47(36):9678-9687.
36. Kohlschutter A, Schulz A. Towards understanding the neuronal ceroid lipofuscinoses. Brain Dev 2009;31(7):499-502.
37. Steinfeld R, Reinhardt K, Schreiber K, et al. Cathepsin D deficiency is associated with a human neurodegenerative disorder. Am J Hum Genet 2006;78(6):988-998.
38. Qiao L, Hamamichi S, Caldwell KA, et al. Lysosomal enzyme cathepsin D protects against alpha-synuclein aggregation and toxicity. Mol Brain 2008;1:17.
39. Matrone C, Dzamko N, Madsen P, et al. Mannose 6-Phosphate Receptor Is Reduced in -Synuclein Overexpressing Models of Parkinsons Disease. PLoS One 2016;11(8):e0160501.
40. Bahr BA, Abai B, Gall CM, Vanderklish PW, Hoffman KB, Lynch G. Induction of beta-amyloid-containing polypeptides in hippocampus: evidence for a concomitant loss of synaptic proteins and interactions with an excitotoxin. Exp Neurol 1994;129(1):81-94.
41. Suzuki K, Iseki E, Togo T, et al. Neuronal and glial accumulation of alpha- and beta-synucleins in human lipidoses. Acta Neuropathol 2007;114(5):481-489.
42. Pisani V, Stefani A, Pierantozzi M, et al. Increased blood-cerebrospinal fluid transfer of albumin in advanced Parkinson's disease. J Neuroinflammation 2012;9:188.