Genetic causes of Parkinson's disease: Extending the pathway

Journal of Neural Transmission, Supplement

Volumn , Issue 70, 2006, Pages 181-189

  Riess, O ^a   Kruger R ^b   Hochstrasser, H ^a   Soehn, A S ^a   Nuber, S ^a   Franck, T ^a   Berg, D ^a,b  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

IRON; UBIQUITIN;

CONFERENCE PAPER; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENE; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC DAMAGE; HUMAN; IRON METABOLISM; NERVE DEGENERATION; NONHUMAN; OXIDATIVE STRESS; PARK GENE; PARKINSON DISEASE; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN PHOSPHORYLATION; PROTEIN PROCESSING; STRIATONIGRAL DEGENERATION;

EID: 33750299699     PISSN: 03036995     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-3-211-45295-0_29     Document Type: Conference Paper

References (61)

1. Bandopadhyay R, Kingsbury AE, Muqit MM, Harvey K, Reid AR, Kilford L, Engelender S, Schlossmacher MG, Wood NW, Latchman DS, Harvey RJ, Lees AJ (2005) Synphilin-1 and parkin show overlapping expression patterns in human brain and form aggresomes in response to proteasomal inhibition. Neurobiol Dis 20: 401-411
2. Beal MF (2000) Energetics in the pathogenesis of neurodegenerative diseases. Trends Neurosci 23: 298-304
3. Beilina A, Brug M, Ahmad R, Kesavapany S, Miller DW, Petsko GA, Cookson MR (2005) Mutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stability. PNAS 102: 5703-5708
4. Berg D, Roggendorf W, Schröder U, Klein R, Tatschner T, Benz P, Tucha O, Preier M, Lange KW, Reiners K, Gerlach M, Becker G (2002) Echogenicity of the substantia nigra - association with increased iron content and marker for susceptibility to nigrostriatal injury. Arch Neurol 59: 999-1005
5. Berg D, Holzmann C, Riess O (2003a) 14-3-3 proteins in the nervous system. Nat Neurosci 4: 752-762
6. Berg D, Riess O, Bornemann A (2003b) Specification of 14-3-3 proteins in Lewy bodies. Ann Neurol 54: 135
7. Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E, Dekker MCJ, Squitieri F, Ibanez P, Joosse M, can Dongen JW, Vanacore N, van Swieten JC, Brice A, Meco G, van Duijn CM, Oostra BA, Heutink P (2003) Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 299: 256-259
8. Bosio S, De Gobbi M, Roetto A, Zecchina G, Leonardo E, Rizzetto M, Lucetti C, Petrozzi L, Bonuccelli U, Camaschella C (2002) Anemia and iron overload due to compound heterozygosity for novel ceruloplasmin mutation. Blood 100: 2246-2248
9. Canet-Aviles RM, Wilson MA, Miller DW, Ahmad R, McLendon C, Bandyopadhyay S, Baptista MJ, Ringe D, Petsko GA, Cookson MR (2004) The Parkinson's disease protein DJ-1 is neuroprotective due to cysteine-sulfinic acid-driven mitochondrial localization. PNAS 101: 9103-9108
10. Chung KKK, Zhang Y, Lim KL, Tanaka Y, Huang H, Gao J, Ross CA, Dawson VL, Dawson TM (2001) Parkin ubiquitinates the α-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease. Nat Med 7: 1144-1150
11. Curtis ARJ, Fey C, Morris CM, Bindoff LA, Ince PG, Chinnery PF, Coulthard A, Jackson MJ, Jackson AP, McHale DP, Hay D, Barker WA, Markham AF, Bates D, Curtis A, Burn J (2001) Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nature Genet 28: 350-354
12. Deplazes J, Schobel K, Hochstrasser H, Bauer P, Walter U, Behnke S, Spiegel J, Becker G, Riess O, Berg D (2004) Screening for mutations of the IRP2 gene in Parkinson's disease patients with hyperechogenicity of the substantia nigra. J Neural Transm 111: 15-521
13. Engelender S, Kaminsky Z, Guo X, Sharp AH, Amaravi RK, Kleiderlein JJ, Margolis RL, Troncoso JC, Lanahan AA, Worley PF, Dawson VL, Dawson TM, Ross CA (1999) Synphilin-1 associated with α-synuclein and promotes the formation of cytosolic inclusions. Nat Genet 22: 110-114
14. Farrer M, Wavrant-De Vrieze F, Crook R, Boles L, Perez-Tur J, Hardy J, Johnson WG, Steele J, Maraganore D, Gwinn K, Lynch T (1998) Low frequency of alpha-synuclein mutations in familial Parkinson's disease. Ann Neurol 43: 394-397
15. Felletschin B, Bauer P, Walter U, Behnke S, Spiegel J, Csoti I, Sommer U, Zeiler B, Becker G, Riess O, Berg D (2003) Screening for mutations of the ferritin light and heavy genes in Parkinson's disease patients with hyperechogenicity of the substantia nigra. Neurosci Lett 352: 53-56
16. Gasser T, Müller-Myhsok B, Wszolek ZK, Oehlmann R, Calne DB, Bonifati V, Bereznai B, Fabrizio E, Vieregge P, Horstmann RD (1998) A susceptibility locus for Parkinson's disease maps to chromosome 2p13. Nat Genet 18: 262-265
17. Gearan T, Castillo OA, Schwarzschild MA (2001) The parkinsonian neurotoxin, MPP+ induces phosphorylated c-Jun in dopaminergic neurons of mesencephalic cultures. Parkinsonism Relat Disord 8: 19-22
18. Giasson BI, Uryu K, Trojanowski JQ, Lee VM (1999) Mutant and wild type human alpha-synucleins assemble into elongated filaments with distinct morphologies in vitro. J Biol Chem 274: 7619-7622
19. Goldberg MS, Fleming SM, Palacino JJ, Cepeda C, Lam HA, Bhatnagar A, Meloni EG, Wu N, Ackerson LC, Klapstein GJ, Gajendiran M, Roth BL, Chesselet MF, Maidment NT, Levine MS, Shen J (2003) Parkin-deficient mice exhibit nigrostriatal deficits but not loss of dopaminergic neurons. J Biol Chem 278: 43628-43635
20. Greene JC, Whitworth AJ, Kuro I, Andrews LA, Feanny MB, Pallanck LI (2003) Genetic and genomic studies of Drosophila parkin mutants implicate oxidative stress and innate immune responses in pathogenesis. Proc Natl Acad Sci 100: 4078-4083
21. Hampshire DJ, Roberts E, Crow Y, Bond J, Mubaidin A, Wriekat AL, Al-Din A, Woods CG (2001) Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36. J Med Genet 38: 680-682
22. Helenius A, Aebi M (2004) Roles of N-linked glycans in the endoplasmatic reticulum. Annu Rev Biochem 73: 1019-1049
23. Hicks AA, Petursson H, Jonsson T, Stefansson H, Johannsdottir HS, Sainz J, Frigge ML, Kong A, Gulcher JR, Stefansson K, Sveinbjornsdottir S (2002) A susceptibility gene for late-onset idiopathic Parkinson's disease. Ann Neurol 52: 549-555
24. Hochstrasser H, Bauer P, Walter U, Behnke S, Spiegel J, Csoti I, Zeiler B, Bornemann A, Pahnke J, Becker G, Riess O, Berg D (2004) Ceruloplasmin gene variations and substantia nigra hyperechogenicity in Parkinson disease. Neurology 63: 1912-1917
25. Hochstrasser H, Tomiuk J, Walter U, Behnke S, Spiegel J, Krüger R, Becker G, Riess O, Berg D (2005) Functional relevance of ceruloplasmin mutations in Parkinson's disease. FASEB J 19: 1851-1853
26. Hofmann RM, Pickart CM (1999) Noncanonical MMS2-encoded ubiquitin-conjugating enzyme functions in assembly of novel polyubiquitin chains for DNA repair. Cell 96: 27936-27943
27. Itier JM et al. (2003) Parkin gene inactivation alters behaviour and dopamine neurotransmission in the mouse. Hum Mol Genet 13: 2277-2291
28. Kawamoto Y, Akiguchi I, Nakamura S, Honjyo Y, Shibasaki H, Budka H (2002) 14-3-3 proteins in Lewy bodies in Parkinson's disease and diffuse Lewy body disease brains. J Neuropathol Exp Neurol 61: 245-253
29. 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 autosomal recessive juvenile parkinsonism. Nature 392: 605-608
30. Klomp LW, Gitlin JD (1996) Expression of the ceruloplasmin gene in the human retina and brain: implications for a pathogenic model in aceruloplasminemia. Hum Mol Genet 5: 1989-1996
31. Kohno S, Miyajima H, Takahashi Y (1999) Aceruloplasminemia with a novel mutation associated with parkinsonism. Neurogenetics 2: 237-238
32. Krüger R, Vieira-Saecker AM, Kuhn W, Berg D, Müller T, Kühnl N, Fuchs GA, Storch A, Hungs M, Woitalla D, Przuntek H, Epplen JT, Schöls L, Riess O (1999) Increased susceptibility to sporadic Parkinson's disease by a certain combined alpha-synuclein/apolipoprotein E genotype. Ann Neurol 45: 611-617
33. Kulich SM, Chu CT (2001) Sustained extracellular signal-regulated kinase activation by 6-hydroxydopamine: implications for Parkinson's disease. J Neurochem 77: 1058-1066
34. LaVaute T, Smith S, Cooperman S (2001) Targeted deletion of the gene encoding iron regulatory protein-2 causes misregulation of iron metabolism and neurodegenerative disease in mice. Nat Genet 27: 209-214
35. Lee G, Tanaka M, Park K, Lee SS, Kim YM, Junn E, Lee S-H, Mouradian MM (2004) Casein kinase II-mediated phosphorylation regulates alpha-synuclein/ synphilin-1 interaction and inclusion body formation. J Biol Chem 279: 6834-6839
36. Leroy E, Boyer R, Auburger G, Leube B, Ulm G, Mezey E, Harta G, Brownstein MJ, Jonnalagada S, Chernova T, Dehejia A, Lavedan C, Gasser T. Steinbach P, Wilkinson KD, Polymeropoulos MH (1998) The ubiquitin pathway in Parkinson's disease. Nature 395: 451-452
37. Liani E, Eyal A, Avraham E, Shemer R, Szargel R, Berg D, Bornemann A, Riess O, Ross CA, Rott R, Engelender S (2004) Ubiquitylation of synphilin-1 and alpha-synuclein by SIAH and its presence in cellular inclusions and Lewy bodies imply a role in Parkinson's disease. Proc Natl Acad Sci 101: 5500-5505
38. Liu Y, Fallon L, Lashuel HA et al. (2002) The UCH-L1 gene encodes two opposing enzymatic activities that affect alpha-synuclein degradation and Parkinson's disease susceptibility. Cell 111: 209-218
39. Marx FP, Holzmann C, Strauss KM, Li L, Eberhardt O, Gerhardt E, Cookson MR, Hernandez D, Fairer MJ, Kachergus J, Engelender S, Ross CA, Berger K, Schöls L, Schulz JB, Riess O, Krüger R (2003) Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease. Hum Mol Genet 12: 1223-1231
40. Murray IVJ, Medford MA, Guan HP, Rueter SM, Trojanowski JQ, Lee VMY (2003) Synphilin in normal human brains and in synucleopathies: studies with new antibodies. Acta Neuropathol 105: 177-184
41. Paisan-Ruiz C, Jain S, Evans EW, Gilks WP, Simon J, van der Brug M, Lopez de Munain A, Aparicio S, Gil AM, Khan N, Johnson J, Martinez JR, Nicholl D, Carrera IM, Saenz Pena A, de Silva R, Lees A, Marti-Masso JF, Perez-Tur J, Wood NW, Singleton AB (2004) Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 44: 595-600
42. Palacino JJ, Sabi D, Goldberg MS, Krauss S, Motz C, Wacker M, Klose J, Shen J (2004) Mitochondrial dysfunction and oxidative damage in parkin-deficient mice. J Biol Chem 324: 18614-18622
43. Pankratz N, Nichols WC, Uniacke SK, Halter C, Rudolph A, Shults C, Conneally PM, Foroud T, and the Parkinson Study Group (2003) Significant linkage of Parkinson disease to chromosome 2q36-37. Am J Hum Genet 72: 1053-1057
44. Pesah Y, Ham T, Burgess H, Middlebrooks B, Verstreken P, Zhou Y, Harding M, Bellen H, Marodon G (2004) Drosophila parkin mutants have decreased mass and cell size and increased sensitivity to oxygen radical stress. Development 131: 2183-2194
45. Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, Root H, Rubenstein J, Boyer R, Stenroos ES, Chandrasekharappa T. Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, Iorio GD, Golbe LI, Nussbaum RL (1997) Mutation in alpha-synuclein gene identified in families with Parkinson's disease. Nature 276: 2045-2047
46. Ruprecht-Dörfler P, Berg D, Tucha O, Benz P, Meier-Meitinger M, Alders GL, Lange KW, Becker G (2003) Echogenicity of the substantia nigra in relatives of patients with sporadic Parkinson's disease. NeuroImage 18: 416-422
47. Sato S, Chiba T, Sakata E, Kato K, Mizuno Y, Hattori N, Tanaka K (2005) 14-3-3η is a novel regulator of parkin ubiquitin ligase. EMBO J: 1-11
48. Schapira AH (1999) Mitochondrial involvement in Parkinson's disease, Huntington's disease, hereditary spastic paraplegia and Friedreich's ataxia. Biochim Biophys Acta 1410: 159-170
49. Shen J (2004) Protein kinases linked to the pathogenesis of Parkinson's disease. Neuron 44: 575-577
50. Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, Hulihan M, Peuralinna T, Dutra A, Nussbaum R, Lincoln S, Crawley A, Hanson M, Maraganore D, Adler C, Cookson MR, Muenter M, Baptista M, Miller D, Blancato J, Hardy J, Gwinn-Hardy K (2003) alpha-Synuclein locus triplication causes Parkinson's disease. Science 302: 841
51. Spillantini MG, Schmidt ML, Lee VMY, Trojanowski JQ, Jakes R, Goedert M (1997) Alpha-synuclein in Lewy bodies. Nature 388: 839-840
52. Strauss KM, Martins LM, Plun-Favreau H, Marx FP, Kautzmann S, Berg D, Gasser T, Wszolek Z, Müller T, Bornemann A, Wolburg H, Downward J, Riess O, Schulz JB, Krüger R (2005) Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. Hum Mol Genet 14: 2099-2111
53. Taira T, Saito Y, Niki T, Iguchi-Ariga SM, Takahashi K, Ariga H (2004) DJ-1 has a role in antioxidative stress to prevent cell death. EMBO Rep 5: 213-218
54. Tan EK, Matsuura T, Nagamitsu S, Khajavi M, Jankovic J, Ashizawa T (2000) Polymorphism of NACP-Rep1 in Parkinson's disease: an etiologic link with essential tremor? Neurology 54: 1195-1198
55. Thompson K, Menzies S, Muckenthaler M (2003) Mouse brains deficient in H-ferritin have normal iron concentration but a protein profile of iron deficiency and increased evidence of oxidative stress. J Neurosci Res 71: 46-63
56. Toska K, Kleppe R, Armstrong CG, Morrice NA, Cohen P, Haavik J (2002) Regulation of tyrosine hydroxylase by stress-activated protein kinases. J Neurochem 83: 775-783
57. Touchman JW, Dehejia A, Chiba-Falek O, Cabin DE, Schwartz JR, Orrison BM, Polymeropoulos MH, Nussbaum RL (2001) Human and mouse alpha-synuclein genes: comparative genomic sequence analysis and identification of a novel gene regulatory element. Genome Res 11: 78-86
58. Valente EM, Abou-Sleiman PM, Caputo V, Muqit MMK, Harvey K, Gispert S, Ali Z, Turco DD, Bentivoglio AR, Healy DG, Albanese A, Nussbaum R, Gonzales-Maldonado R, Deller R, Salvi S, Cortelli P, Gilks WP, Latchman DS, Harvey RJ, Dallapiccola B, Auburger G, Wood NW (2004) Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 304: 1158-1160
59. Yamada M, Iwatsubo T, Mizuno Y, Mochizuki H (2004) Overexpression of alpha-synuclein in rat substantia nigra results in loss of dopaminergic neurons, phosphorylation of alpha-synuclein and activation of caspase-9: resemblance to pathogenic changes in Parkinson's disease. J Neurochem 91: 451-461
60. Yamamoto A, Friedlein A, Imai Y, Takahashi R, Kahle PJ, Haass C (2005) Parkin phosphorylation and modulation of its E3 ubiquitin ligase activity. J Biol Chem 280: 3390-3399
61. Zimprich A, Biskup S, Leitner P, Lichtner P, Farrer M, Lincoln S, Kachergus J, Hulihan M, Uitti RJ, Calne DB, Stoessl AJ, Pfeiffer RF, Patenge N, Carbajal IC, Vieregge P, Asmus F, Müller-Myhsok B, Dickson DW, Meitinger T, Strom TM, Wszolek ZK, Gasser T (2004) Mutations in LRRK2 cause autosomal-dominant Parkinsonism with pleomorphic pathology. Neuron 44: 601-607