Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease

FEBS Journal

Volumn 275, Issue 23, 2008, Pages 5767-5773

  Bras, Jose ^a,b   Singleton, Andrew ^a   Cookson, Mark R ^a   Hardy, John ^c,d  

^a National Institute of Aging   (United States)

^b UNIVERSITY OF COIMBRA   (Portugal)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Ceramide; Gene; Glucocerebrosidase; Lewy body; Loci; Mutation; Pathogenesis; Pathway; Risk factor; Susceptibility

Indexed keywords

CERAMIDE;

DIFFUSE LEWY BODY DISEASE; GENE MUTATION; GENETIC RISK; HETEROZYGOSITY LOSS; LIPID METABOLISM; LOCUS CERULEUS; PARKINSON DISEASE; PATHOGENESIS; PRIORITY JOURNAL; SHORT SURVEY;

ALPHA-SYNUCLEIN; CARRIER PROTEINS; CERAMIDES; HUMANS; LEWY BODIES; LEWY BODY DISEASE; MEMBRANE GLYCOPROTEINS; PARKINSON DISEASE; PHOSPHOTRANSFERASES; SERINE C-PALMITOYLTRANSFERASE; SIGNAL TRANSDUCTION;

EID: 55949119836     PISSN: 1742464X     EISSN: 17424658     Source Type: Journal    
DOI: 10.1111/j.1742-4658.2008.06709.x     Document Type: Short Survey

References (56)

1. Farrer MJ (2006) Genetics of Parkinson's disease: paradigm shifts and future prospects. Nat Rev Genet 7, 306 318.
2. Hardy J, Cai H, Cookson MR, Gwinn-Hardy K Singleton A (2006) Genetics of Parkinson's disease and parkinsonism. Ann Neurol 60, 389 398.
3. Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, Root H, Rubenstein J, Boyer R et al. (1997) Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 276, 2045 2047.
4. Kitada T, Asakawa S, Hattori N, Matsumine H, Yamamura Y, Minoshima S, Yokochi M, Mizuno Y Shimizu N (1998) Mutations in the parkin gene cause autossomal recessive juvenile parkinsonism. Nature 392, 605 608.
5. Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E, Dekker MC, Squitieri F, Ibanez P, Joosse M et al. (2003) Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 299, 256 259.
6. Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, Gispert S, Ali Z, Del Turco D, Bentivoglio AR, Healy DG et al. (2004) Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 304, 1158 1160.
7. Paisán-Ruíz C, Jain S, Evans W, Gilks WP, Simón J, van der Brug M, Munain A, Aparicio S, Martínez Gil A, Khan N et al. (2004) Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 44, 595 600.
8. Zimprich A, Biskup S, Leitner P, Lichtner P, Farrer M, Lincoln S, Kachergus J, Hulihan M, Uitti RJ, Calne DB et al. (2004) Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 44, 601 607.
9. Riess O, Kruger R Schulz JB (2002) Spectrum of phenotypes and genotypes in Parkinson's disease. J Neurol 249 (Suppl. 3 III/15 III/20.
10. Lwin A, Orvisky E, Goker-Alpan O, LaMarca ME Sidransky E (2004) Glucocerebrosidase mutations in subjects with parkinsonism. Mol Genet Metab 81, 70 73.
11. Beutler E (1992) Gaucher disease: new molecular approaches to diagnosis and treatment. Science 256, 794 799.
12. Hruska KS, LaMarca ME, Scott CR Sidransky E (2008) Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutat 29, 567 583.
13. 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.
14. Bras J, Paisan-Ruiz C, Guerreiro R, Ribeiro MH, Morgadinho A, Januario C, Sidransky E, Oliveira C Singleton A (2007) Complete screening for glucocerebrosidase mutations in Parkinson's disease patients from Portugal. Neurobiol Aging, doi :.
15. Mata IF, Samii A, Schneer SH, Roberts JW, Griffith A, Leis BC, Schellenberg GD, Sidransky E, Bird TD, Leverenz JB et al. (2008) Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. Arch Neurol 65, 379 382.
16. Dooling EC, Schoene WC Richardson EP Jr. (1974) Hallervorden-Spatz syndrome. Arch Neurol 30, 70 83.
17. Arawaka S, Saito Y, Murayama S Mori H (1998) Lewy body in neurodegeneration with brain iron accumulation type 1 is immunoreactive for alpha-synuclein. Neurology 51, 887 889.
18. Neumann M, Adler S, Schluter O, Kremmer E, Benecke R Kretzschmar HA (2000) Alpha-synuclein accumulation in a case of neurodegeneration with brain iron accumulation type 1 (NBIA-1, formerly Hallervorden-Spatz syndrome) with widespread cortical and brainstem-type Lewy bodies. Acta Neuropathol 100, 568 574.
19. Galvin JE, Giasson B, Hurtig HI, Lee VM Trojanowski JQ (2000) Neurodegeneration with brain iron accumulation, type 1 is characterized by alpha-, beta-, and gamma-synuclein neuropathology. Am J Pathol 157, 361 368.
20. Hortnagel K, Prokisch H Meitinger T (2003) An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria. Hum Mol Genet 12, 321 327.
21. Hannun YA Obeid LM (2008) Principles of bioactive lipid signalling: lessons from sphingolipids. Nat Rev 9, 139 150.
22. 2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet 38, 752 754.
23. Hayashi S, Akasaki Y, Morimura Y, Takauchi S, Sato M Miyoshi K (1992) An autopsy case of late infantile and juvenile neuroaxonal dystrophy with diffuse Lewy bodies and neurofibrillary tangles. Clin Neuropathol 11, 1 5.
24. 2 contains eight ankyrin motifs. J Biol Chem 272, 8567 8575.
25. 2 participates in ER stress-induced INS-1 insulinoma cell apoptosis by promoting ceramide generation via hydrolysis of sphingomyelins by neutral sphingomyelinase. Biochemistry 46, 10170 10185.
26. Vanier MT Millat G (2003) Niemann-Pick disease type C. Clin Genet 64, 269 281.
27. Tamura H, Takahashi T, Ban N, Torisu H, Ninomiya H, Takada G Inagaki N (2006) Niemann-Pick type C disease: novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency. Mol Genet Metab 87, 113 121.
28. Saito Y, Suzuki K, Hulette CM Murayama S (2004) Aberrant phosphorylation of alpha-synuclein in human Niemann-Pick type C1 disease. J Neuropathol Exp Neurol 63, 323 328.
29. Dawkins JL, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M Nicholson GA (2001) Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nat Genet 27, 309 312.
30. Hornemann T, Richard S, Rutti MF, Wei Y von Eckardstein A (2006) Cloning and initial characterization of a new subunit for mammalian serine- palmitoyltransferase. J Biol Chem 281, 37275 37281.
31. Mandell AJ Smith CK (1960) Hereditary sensory radicular neuropathy. Neurology 10, 627 630.
32. Dyck PJ, Low PA Stevens JC (1983) 'Burning feet' as the only manifestation of dominantly inherited sensory neuropathy. Mayo Clinic Proc 58, 426 429.
33. Ramirez A, Heimbach A, Grundemann J, Stiller B, Hampshire D, Cid LP, Goebel I, Mubaidin AF, Wriekat AL, Roeper 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.
34. Najim al-Din AS, Wriekat A, Mubaidin A, Dasouki M Hiari M (1994) Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome. Acta Neurol Scand 89, 347 352.
35. Paxinou E, Chen Q, Weisse M, Giasson BI, Norris EH, Rueter SM, Trojanowski JQ, Lee VM Ischiropoulos H (2001) Induction of alpha-synuclein aggregation by intracellular nitrative insult. J Neurosci 21, 8053 8061.
36. Lee HJ, Khoshaghideh F, Patel S Lee SJ (2004) Clearance of alpha-synuclein oligomeric intermediates via the lysosomal degradation pathway. J Neurosci 24, 1888 1896.
37. Li W, Lesuisse C, Xu Y, Troncoso JC, Price DL Lee MK (2004) Stabilization of alpha-synuclein protein with aging and familial parkinson's disease-linked A53T mutation. J Neurosci 24, 7400 7409.
38. Cuervo AM, Stefanis L, Fredenburg R, Lansbury PT Sulzer D (2004) Impaired degradation of mutant alpha-synuclein by chaperone-mediated autophagy. Science 305, 1292 1295.
39. Vogiatzi T, Xilouri M, Vekrellis K Stefanis L (2008) Wild type α-synuclein is degraded by chaperone mediated autophagy and macroautophagy in neuronal cells. J Biol Chem 283 (35 23542 23556.
40. Settembre C, Fraldi A, Jahreiss L, Spampanato C, Venturi C, Medina D, de Pablo R, Tacchetti C, Rubinsztein DC Ballabio A (2008) A block of autophagy in lysosomal storage disorders. Hum Mol Genet 17, 119 129.
41. Kruger R, Kuhn W, Muller T, Woitalla D, Graeber MB, Kosel S, Przuntek H, Epplen JT, Schols L Riess O (1998) Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease. Nat Genet 18, 106 108.
42. Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, Hulihan M, Peuralinna T, Dutra A, Nussbaum R et al. (2003) Alpha-synuclein locus triplication causes Parkinson's disease. Science 302, 841.
43. Ibanez P, Bonnet AM, Debarges B, Lohmann E, Tison F, Pollak P, Agid Y, Durr A Brice A (2004) Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease. Lancet 364, 1169 1171.
44. Chartier-Harlin MC, Kachergus J, Roumier C, Mouroux V, Douay X, Lincoln S, Levecque C, Larvor L, Andrieux J, Hulihan M et al. (2004) Alpha-synuclein locus duplication as a cause of familial Parkinson's disease. Lancet 364, 1167 1169.
45. Zarranz JJ, Alegre J, Gomez-Esteban JC, Lezcano E, Ros R, Ampuero I, Vidal L, Hoenicka J, Rodriguez O, Atares B et al. (2004) The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia. Ann Neurol 55, 164 173.
46. Ostrerova-Golts N, Petrucelli L, Hardy J, Lee JM, Farer M Wolozin B (2000) The A53T alpha-synuclein mutation increases iron-dependent aggregation and toxicity. J Neurosci 20, 6048 6054.
47. Golovko MY, Faergeman NJ, Cole NB, Castagnet PI, Nussbaum RL Murphy EJ (2005) Alpha-synuclein gene deletion decreases brain palmitate uptake and alters the palmitate metabolism in the absence of alpha-synuclein palmitate binding. Biochemistry 44, 8251 8259.
48. Patil S, Melrose J Chan C (2007) Involvement of astroglial ceramide in palmitic acid-induced Alzheimer-like changes in primary neurons. Eur J Neurosci 26, 2131 2141.
49. van Ham TJ, Thijssen KL, Breitling R, Hofstra RM, Plasterk RH Nollen EA (2008) C. elegans model identifies genetic modifiers of alpha-synuclein inclusion formation during aging. PLoS Genet 4, e1000027.
50. Lesage S, Durr A, Tazir M, Lohmann E, Leutenegger AL, Janin S, Pollak P Brice A (2006) LRRK2 G2019Sas a cause of Parkinson's disease in North African Arabs. N Engl J Med 354, 422 423.
51. Bras J, Guerreiro R, Ribeiro M, Januário C, Morgadinho A, Oliveira C, Cunha L, Hardy J Singleton A (2005) G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort. Mov Disord 20, 1653 1655.
52. Gilks WP, Abou-Sleiman PM, Gandhi S, Jain S, Singleton A, Lees AJ, Shaw K, Bhatia KP, Bonifati V, Quinn NP et al. (2005) A common LRRK2 mutation in idiopathic Parkinson's disease. Lancet 365, 415 416.
53. Greggio E, Zambrano I, Kaganovich A, Beilina A, Taymans JM, Daniels V, Lewis P, Jain S, Ding J, Syed A et al. (2008) The Parkinson's disease-associated leucine-rich repeat kinase 2 (LRRK2) is a dimer that undergoes intramolecular autophosphorylation. J Biol Chem 283, 16906 16914.
54. Aasly JO, Toft M, Fernandez-Mata I, Kachergus J, Hulihan M, White LR Farrer M (2005) Clinical features of LRRK2-associated Parkinson's disease in central Norway. Ann Neurol 57, 762 765.
55. Funayama M, Hasegawa K, Ohta E, Kawashima N, Komiyama M, Kowa H, Tsuji S Obata F (2005) An LRRK2 mutation as a cause for the parkinsonism in the original PARK8 family. Ann Neurol 57, 918 921.
56. Ogretmen B Hannun YA (2004) Biologically active sphingolipids in cancer pathogenesis and treatment. Nat Rev 4, 604 616.