Decreased expression of lysosomal alpha-Galactosiase a gene in sporadic parkinson's disease

Neurochemical Research

Volumn 36, Issue 10, 2011, Pages 1939-1944

  Wu, Guanghua ^a   Huang, Jian ^a   Feng, Xungang ^a   Zhang, Aimei ^a   Li, Jifeng ^a   Pang, Shuchao ^a   Gu, Kejin ^a   Dong, Haixin ^a   Zhang, Junping ^a   Gao, Huijie ^a   Yan, Bo ^a  

^a JINING MEDICAL UNIVERSITY   (China)

Author keywords

Alpha galactosidase A; Gene expression; Leukocytes; Lysosome; Parkinson's disease

Indexed keywords

ALPHA GALACTOSIDASE;

ADULT; ARTICLE; CONTROLLED STUDY; FEMALE; GENE; GENE ACTIVITY; GENE EXPRESSION; GENE FUNCTION; GENE TRANSLOCATION; GENETIC ASSOCIATION; GLA GENE; HUMAN; HUMAN CELL; LEUKOCYTE; MAJOR CLINICAL STUDY; MALE; PARKINSON DISEASE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN SYNTHESIS;

AGED; ALPHA-GALACTOSIDASE; GENE EXPRESSION REGULATION, ENZYMOLOGIC; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LEUKOCYTES; LYSOSOMES; MALE; MIDDLE AGED; PARKINSON DISEASE;

EID: 80555123101     PISSN: 03643190     EISSN: 15736903     Source Type: Journal    
DOI: 10.1007/s11064-011-0516-0     Document Type: Article

References (49)

1. Bras JM, Singleton A (2009) Genetic susceptibility in Parkinson's disease. Biochim Biophys Acta 1792:597-603
2. Gasser T (2009) Mendelian forms of Parkinson's disease. Biochim Biophys Acta 1792:587-596
3. Lesage S, Brice A (2009) Parkinson's disease: From monogenic forms to genetic susceptibility factors. Hum Mol Genet 18(R1): R48-R59
4. Xie W, Wan OW, Chung KK (2010) New insights into the role of mitochondrial dysfunction and protein aggregation in Parkinson's disease. Biochim Biophys Acta 1802:935-941
5. Bandopadhyay R, de Belleroche J (2010) Pathogenesis of Parkinson's disease: Emerging role of molecular chaperones. Trends Mol Med 16:27-36
6. Cookson MR, Bandmann O (2010) Parkinson's disease: Insights from pathways. Hum Mol Genet 19(R1):R21-R27
7. Hardy J (2010) Genetic analysis of pathways to Parkinson disease. Neuron 68:201-206
8. Spillantini MG, Schmidt ML, Lee VM et al (1997) Alpha-synuclein in Lewy bodies. Nature 388:839-840
9. Waxman EA, Giasson BI (2009) Molecular mechanisms of alphasynuclein neurodegeneration. Biochim Biophys Acta 1792: 616-624
10. Simón-Sánchez J, Schulte C, Bras JM et al (2009) Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet 41:1308-1312
11. Maraganore DM, de Andrade M, Elbaz A et al (2006) Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. JAMA 296:661-670 (Pubitemid 44200637)
12. Winkler S, Hagenah J, Lincoln S et al (2007) alpha-Synuclein and Parkinson disease susceptibility. Neurology 69:1745-1750
13. Eriksen JL, Przedborski S, Petrucelli L (2005) Gene dosage and pathogenesis of Parkinson's disease. Trends Mol Med 11:91-96 (Pubitemid 40348985)
14. Levine B, Kroemer G (2008) Autophagy in the pathogenesis of disease. Cell 132:27-42
15. Levine B, Klionsky DJ (2004) Development by self-digestion: Molecular mechanisms and biological functions of autophagy. Dev Cell 6:463-477 (Pubitemid 38456176)
16. Banerjee R, Beal MF, Thomas B (2010) Autophagy in neurodegenerative disorders: Pathogenic roles and therapeutic implications. Trends Neurosci 33:541-549
17. Pan T, Kondo S, Le W et al (2008) The role of autophagylysosome pathway in neurodegeneration associated with Parkinson's disease. Brain 131(Pt 8):1969-1978
18. Wong E, Cuervo AM (2010) Autophagy gone awry in neurodegenerative diseases. Nat Neurosci 13:805-811
19. Cuervo AM, Stefanis L, Fredenburg R et al (2004) Impaired degradation of mutant alpha-synuclein by chaperone-mediated autophagy. Science 305:1292-1295 (Pubitemid 39129234)
20. Lee HJ, Khoshaghideh F, Patel S et al (2004) Clearance of alphasynuclein oligomeric intermediates via the lysosomal degradation pathway. J Neurosci 24:1888-1896 (Pubitemid 38292800)
21. Mak SK, McCormack AL, Manning-Bog AB et al (2010) Lysosomal degradation of alpha-synuclein in vivo. J Biol Chem 285:13621-13629
22. Vogiatzi T, Xilouri M, Vekrellis K et al (2008) Wild type alphasynuclein is degraded by chaperone-mediated autophagy and macroautophagy in neuronal cells. J Biol Chem 283:23542-23556
23. Webb JL, Ravikumar B, Atkins J et al (2003) Alpha-Synuclein is degraded by both autophagy and the proteasome. J Biol Chem 278:25009-25013 (Pubitemid 37548663)
24. Aharon-Peretz J, Rosenbaum H, Gershoni-Baruch R (2004) Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med 351:1972-1977 (Pubitemid 39447138)
25. Ramirez A, Heimbach A, Gründemann J et al (2006) Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nat Genet 38:1184-1191 (Pubitemid 44470365)
26. Saito Y, Suzuki K, Hulette CM et al (2004) Aberrant phosphorylation of alpha-synuclein in human Niemann-Pick type C1 disease. J Neuropathol Exp Neurol 63:323-328 (Pubitemid 38429029)
27. Suzuki K, Iseki E, Katsuse O et al (2003) Neuronal accumulation of alpha-and beta-synucleins in the brain of a GM2 gangliosidosis mouse model. Neuroreport 14:551-554 (Pubitemid 36528988)
28. Suzuki K, Iseki E, Togo T et al (2007) Neuronal and glial accumulation of alpha-and beta-synucleins in human lipidoses. Acta Neuropathol 114:481-489 (Pubitemid 47521504)
29. Desnick RJ, Ioannou YA, Eng CM (2001) a-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Kinzler KE, Vogelstein B (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 3733-3774
30. Wu G, Yan B, Wang X et al (2008) Decreased activities of lysosomal acid alpha-D-galactosidase A in the leukocytes of sporadic Parkinson's disease. J Neurol Sci 271:168-173
31. Jeyakumar M, Dwek RA, Butters TD et al (2005) Storage solutions: Treating lysosomal disorders of the brain. Nat Rev Neurosci 6:713-725 (Pubitemid 44773245)
32. Fukuda T, Ewan L, Bauer M et al (2006) Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease. Ann Neurol 59:700-708
33. Koike M, Shibata M, Waguri S et al (2005) Participation of autophagy in storage of lysosomes in neurons from mouse models of neuronal ceroid-lipofuscinoses (Batten disease). Am J Pathol 167:1713-1728 (Pubitemid 41713322)
34. Settembre C, Fraldi A, Jahreiss L et al (2008) A block of autophagy in lysosomal storage disorders. Hum Mol Genet 17:119-129
35. Tanaka Y, Guhde G, Suter A et al (2000) Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice. Nature 406:902-906 (Pubitemid 30664267)
36. Vergarajauregui S, Connelly PS, Daniels MP et al (2008) Autophagic dysfunction in mucolipidosis type IV patients. Hum Mol Genet 17:2723-2737
37. Settembre C, Fraldi A, Rubinsztein DC et al (2008) Lysosomal storage diseases as disorders of autophagy. Autophagy 4:113-114
38. Chévrier M, Brakch N, Lesueur C et al (2010) Autophagosome maturation is impaired in Fabry disease. Autophagy 6:589-599
39. Hara T, Nakamura K, Matsui M et al (2006) Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice. Nature 441:885-889
40. Komatsu M, Waguri S, Chiba T et al (2006) Loss of autophagy in the central nervous system causes neurodegeneration in mice. Nature 441:880-884
41. Ballabio A, Gieselmann V (2009) Lysosomal disorders: From storage to cellular damage. Biochim Biophys Acta 1793:684-696
42. Eckhardt M (2010) Pathology and current treatment of neurodegenerative sphingolipidoses. Neuromolecular Med 12:362-382
43. Yu RK, Nakatani Y, Yanagisawa M (2009) The role of glycosphingolipid metabolism in the developing brain. J Lipid Res 50(Suppl):S440-S445
44. Wei J, Fujita M, Nakai M et al (2009) Protective role of endogenous gangliosides for lysosomal pathology in a cellular model of synucleinopathies. Am J Pathol 174:1891-1909
45. Wu G, Lu ZH, Kulkarni N et al (2011) Mice lacking major brain gangliosides develop Parkinsonism. Neurochem Res (in press)
46. Futerman AH, van Meer G (2004) The cell biology of lysosomal storage disorders. Nat Rev Mol Cell Biol 5:554-565 (Pubitemid 38868584)
47. Meikle PJ, Hopwood JJ, Clague AE et al (1999) Prevalence of lysosomal storage disorders. JAMA 281:249-254 (Pubitemid 29058114)
48. Spada M, Pagliardini S, Yasuda M et al (2006) High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet 79:31-40 (Pubitemid 43927374)
49. Zarate YA, Hopkin RJ (2008) Fabry's disease. Lancet 372: 1427-1435