Familial Parkinson's disease: A hint to elucidate the mechanisms of nigral degeneration

Journal of Neurology, Supplement

Volumn 250, Issue 3, 2003, Pages 2-10

  Hattori, Nobutaka ^a   Kobayashi, Hirokazu ^a   Sasaki Hatano, Yasuko ^a   Sato, Kenichi ^a   Mizuno, Yoshikuni ^a  

^a JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

synuclein; DJ 1; Familial Parkinson's disease; Lewy bodies; Parkin; Ubiquitin carboxy terminal hydrolase L1; Ubiquitin ligase; Ubiquitin proteasome pathway

Indexed keywords

ALPHA SYNUCLEIN; DOPAMINE; HYDROLASE; PARKIN; PROTEOME; UBIQUITIN;

AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN DEGENERATION; CARBOXY TERMINAL SEQUENCE; CONFERENCE PAPER; ENVIRONMENTAL FACTOR; FAMILIAL DISEASE; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC DISORDER; GENETIC HETEROGENEITY; HEREDITY; HUMAN; LEWY BODY; MOLECULAR GENETICS; NONHUMAN; OXIDATIVE STRESS; PARKINSON DISEASE; PATHOGENESIS; POINT MUTATION; PRIORITY JOURNAL; PROTEIN MODIFICATION; SIGNAL TRANSDUCTION; SUBSTANTIA NIGRA; TWINS;

ALPHA-SYNUCLEIN; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MIDDLE AGED; MUTATION; NERVE TISSUE PROTEINS; ONCOGENE PROTEINS; PARKINSONIAN DISORDERS; SUBSTANTIA NIGRA; SYNUCLEINS; UBIQUITIN-PROTEIN LIGASES;

EID: 0142062102     PISSN: 09391517     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (84)

1. Beghi E, Monticelli ML, Sesssa A, Simone P, the Itarilan general practitioner study group (IGPSG) (1994) The prevalence of parkinsonism in Italy: an epidemiological survey of the disease in general prctice. Mov Diord 9:403-408
2. Harada H, Nishikawa S, Takahashi K (1983) Epidemology of Parkinon's disease in a Japanese city. Arch Neurol 40:151-154
3. Payami H, Bernard S, Larsen K, Kaye J, Nutt J (1995) Genetic anticipation in Parkinson's disease. Neurol 45:135-138
4. Marder K, Tang M-X, Meijia H, Alfaro B, Cote L, Lous E, Groves J, Mayeux R (1996) Risk of Parkinson's disease among first degree relatives: a community-based study. Neurol 47:155-160
5. Rybicki BA, Johnson CC, Peterson EL, Kortsha GX, Gorell JM (1999) A family history of Parkinson's disease and its effect on other PD risk factors. Neuroepidemiol 18:270-278
6. Elbaz A, Grigoletto F, Baldereschi M, Breteler MM, Manubens-Bertran JM, Lopez-Pousa S, Dartigues FJ, Alpérovitch A, Tzourio C, Rocca WA, European Parkinson study group (1999) Familial aggregation of Parkinson's disease. A population-based case-control study in Europe. Neurol 52: 1876-1882
7. Burn DJ, Mark MH, Playford ED, Maraganore DM, Zimmerman TR Jr, Duvoisin RC, Harding AE, Marsden CD, Brooks DJ (1992) Parkinson's disease in twins studied with 18F-Dopa and positron emission tomography. Neurol 42:1894-1900
8. Holthoff VA, Vieregge P, Kassler J, Pietrzyk U, Herholz K, Bonner J, Wagner R, Wienhard K, Pawlik G, Heiss WD (1994) Discordant twins with Parkinson's disease: positron emission tomography and early signs of impaired cognitive circuits. Ann Neurol 36:176-182
9. Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, Root H, Rubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, Di Iorio G, Golbe LI, Nussbaum RL (1997) Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 276: 2045-2047
10. 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
11. 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 PJ, Wilkinson KD, Polymeropoulos MH (1998) The ubiquitin pathway in Parkinson's disease. Nature 395: 451-452
12. Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E, Dekker MC, Squitieri F, Ibanez P, Joosse M, van Dongen JW, Vanacore N, van Swieten JC, Brice A, Meco G, van Duijin CM, Oostra BA, Heutink P (2003) Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 299:256-259
13. Le W-D, Xu P, Jankovic J, Jiang H, Appel SH, Smith RG, Vassilatis DK (2003) Mutations in NR4A2 associated with familial Parkinson disease. Nat Genet 33:85-89
14. Gasser T, Muller-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
15. Farrer M, Gwinn-Hardy K, Muenter M, DeVrieze FW, Crook R, Perez-Tur J, Lincoln S, Maraganore D, Adler C, Newman S, MacElwee K, McCarthy P, Miller C, Waters C, Hardy J (1999) A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor. Hum Mol Genet 8:81-85
16. Valente EM, Bentivoglio AR, Dixon PH, Ferraris A, Ialongo T, Frontali M, Albanese A, Wood NW (2001) Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36. Am J Hum Genet 68:895-900
17. Funayama M, Hasegawa K, Kowa H, Saito M, Tsuji S, Obata F (2002) A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1. Ann Neurol 51:296-301
18. 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
19. 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
20. Golbe LI, Di Iorio G, Sanges G, Lazzarini AM, La Sala S, Bonavita V, Duvoisin RC (1996) Clinical genetic analysis of Parkinson's disease in the Contursi kindred. Ann Neurol 40: 767-775
21. Krüger R, Kuhn W, Müller T, Woitalla D, Graeber M, 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
22. Spillantini MG, Schmidt ML, Lee VM, Trojanowski JQ, Jakes R, Goedert M (1997) Alpha-synuclein in Lewy bodies. Nature 388:839-840
23. Kobayashi H, Krüger R, Maropoulou K, Wszolek Z, Chace B, Taka H, Mineki R, Murayama K, Riess O, Mizuno Y, Hattori N (2003) Haploinsufficiency at the α-synuclein gene underlies phenotype severity in familial Parkinson's disease. Brain 126:32-42
24. Iwai A, Masliah E, Yoshimoto M, Ge N, Flanagan L, de Silva HA, Kittle A, Saito T (1995) The precursor protein of non-Ab component of Alzheimer's disease amyloid is a presynaptic protein of central nervous system. Neuron 14: 467-475
25. Ueda K, Fukushima H, Masliah E, Xia Y, Iwai A, Yoshimoto M, Otero DA, Kondo J, Ihara Y, Saitoh T (1993) Molecular cloning of cDNA encoding an unrecognized component of amyloid in Alzheimer disease. Proc Natl Acad Sci USA 90:11282-11286
26. Tu PH, Galvin JE, Baba M, Giasson B, Tomita T, Leight S, Nakajo S, Iwatsubo T, Trojanowski JQ, Lee VM (1998) Glial cytoplasmic inclusions in white matter oligodendrocytes of multiple system atrophy brains contain insoluble alpha-synuclein. Ann Neurol 44:415-422
27. Maroteaux L, Campanelli JT, Scheller RHN (1988) Synuclein: a neuron-specific protein localized to the nucleus and presynaptic nerve terminal. J Neurosci 8:2804-2815
28. Clayton DF, George JM (1998) The synucleins: a family of proteins involved in synaptic function, plasticity, neurodegeneration, and disease. Trends Neurosci 21:249-254
29. Maroteaux L, Campanelli JT, Scheller RHN (1988) Synuclein: a neuron-specific protein localized to the nucleus and presynaptic nerve terminal. J Neurosci 8:2804-2815
30. Maroteaux L, Scheller RH (1991) The rat brain synucleins; family of proteins transiently associated with neuronal membrane. Brain Res Mol Brain Res 11:335-343
31. Jensen PH, Nielsen MS, Jakes R, Dotti CG, Goedert M (1998) Binding of alpha-synuclein to brain vesicles is abolished by familial Parkinson's disease mutation. J Biol Chem 273: 26292-26294
32. Conway KA, Harper JD, Lansbury PT (1998) Accelerated in vitro fibril formation by a mutant a-synuclein linked to early-onset Parkinson disease. Nature Med 4:1318-1320
33. El-Agnaf OM, Jakes R, Curran MD, Wallace A (1998) Effects of the mutations Ala30 to Pro and Ala53 to Thr on the physical and morphological properties of alpha-synuclein protein implicated in Parkinson's disease. FEBS Lett 440:67-70
34. El-Agnaf OM, Jakes R, Curran MD, Middleton D, Ingenito R, Bianchi E, Pessi A, Neill D, Wallace A (1998) Aggregates from mutant and wild-type alpha-synuclein proteins and NAC peptide induce apoptotic cell death in human neuroblastoma cells by formation of beta-sheet and amyloid-like filaments. FEBS Lett 440:71-75
35. Xu J, Kao SY, Lee FJ, Song W, Jin LW, Yankner BA (2002) Dopamine-dependent neurotoxicity of alpha-synuclein: a mechanism for selective neurodegeneration in Parkinson disease. Nat Med 8:600-606.
36. Tofaris GK, Layfield R, Spillantini MG (2001) alpha-synuclein metabolism and aggregation is linked to ubiquitin-independent degradation by the proteasome. FEBS Lett 509:22-26
37. Pickart CM (2000) Ubiquitin in chains. Trends Biochem Sci 25:544-548
38. Abeliovich A, Schmitz Y, Farinas I, Choi-Lundberg D, Ho W, Castillo PE, Shinsky N, Verdugo JMG, Armanini M, Ryan A, Hynes M, Phillips H, Sulzer D, Rosenthal A (2000) Mice lacking a-synuclein display functional deficits in the nigrostriatal dopamine system. Neuron 25:239-252
39. Masliah E, Rockenstein E, Veinbergs I, Mallory M, Hashimoto M, Takeda A, Sagara Y, Sisk A, Mucke L (2000) Dopaminergic loss and inclusion body formation in α-synuclein mice: implications for neurodegenerative disorders. Science 287:1265-1269
40. Feany MB, Bender WW (2000) Drosophila model of Parkinson's disease Nature 404:394-398
41. Hattori N, Shimura H, Kubo S, Wang M, Shimizu N, Tanaka K, Mizuno Y (2000) Importance of familial Parkinson's disease and parkinsonism to the understanding of nigral degeneration in sporadic Parkinson's disease. J Neural Transm (Suppl) 60:85-100
42. Fujiwara H, Hasegawa M, Dohmae N, Kawashima A, Masliah E, Goldberg MS, Shen J, Takio K, Iwatsubo T (2002) Alpha-synuclein is phosphorylated in synucleinopathy lesions. Nat Cell Biol 4:160-164
43. Yamamura Y, Sobue I, Ando K, Iida M, Yanagi T (1997) Paralysis agitans of early onset with marked diurnal fluctuation of symptoms. Neurology 23: 239-244
44. Hattori N, Matsumine H, Kitada T, Asakawa S, Yamamura Y, Kobayashi T, Yokochi M, Yoshino H, Wang M, Kondo T, Kuzuhara S, Nakamura S, Shimizu N, Mizuno Y (1998) Molecular analysis of a novel ubiquitin-like protein (PARKIN) gene in Japanese families with AR-JP: evidence of homozygous deletions in the PARKIN gene in affected individuals. Ann Neurol 44: 935-941
45. Hattori N, Matsumine H, Asakawa S, Kitada T, Yoshino H, Elibol B, Brooks AJ, Yamamura Y, Kobayashi T, Wang M, Yoritaka A, Minoshima S, Shimizu N, Mizuno Y (1998) Point mutations (Thr240Arg and Gln311Stop) in the parkin gene. Biochem Biophys Res Commun 249:754-758
46. Abbas N, Lücking CB, Ricard S, Dürr A, Bonifati V, De Michele G, Bouley S, Vaughan JR, Gasser T, Marconi R, Broussolle E, Brefel-Courbon C, Harhangi BS, Oostra BA, Fabrizio E, Böhme GA, Pradler L, Wood NW, Filla A, Meco G, Denefle P, Agid Y, Brice A, the French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic susceptibility in Parkinson's Disease (1999) A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. Hum Mol Gen 8:567-574
47. Lucking CB, Durr A, Bonifati V, Vaughan J, De Michele G, Gasser T, Harhangi BS, Meco G, Denefle P, Wood NW, Agid Y, Brice A (2000) Association between early-onset Parkinson's disease and mutations in the parkin gene. N Engl J Med 342:1560-1567
48. Periquet M, Latouche M, Lohmann E, Rawal N, De Michele G, Ricard S, Teive H, Fraix V, Vidailhet M, Nicholl D, Barone P, Wood NW, Raskin S, Deleuze JF, Agid Y, Durr A, Brice A, French Parkinson's Disease Genetics Study Group (2003) Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain 126:1271-1278
49. Hilker R, Klein C, Ghaemi M, Kis B, Strotmann T, Ozelius LJ, Lenz O, Vieregge P, Herholz K, Heiss WD, Pramstaller PP (2001) Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene. Ann Neurol 49:367-376
50. Maruyama M, Ikeuchi T, Saito M, Ishikawa A, Yuasa T, Tanaka H, Hayashi S, Wakabayashi K, Takahashi H, Tsuji S (2000) Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism. Ann Neurol 48:245-250
51. Klein C, Pramstaller PP, Kis B, Page CC, Kann M, Leung J, Woodward H, Castellan CC, Scherer M, Vieregge P, Breakefield XO, Kramer PL, Ozelius LJ (2000) Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype. Ann Neurol 48(1):65-71
52. Kobayashi T, Matsumine H, Zhang J, Imamichi Y, Mizuno Y, Hattori N (2003) Pseudo-autosomal dominant inheritance of PARK2: two families with parkin gene mutations. J Neurol Sci 207:11-17
53. Shimura H, Hattori N, Kubo S, Mizuno Y, Asakawa S, Minoshima S, Shimizu N, Iwai K, Chiba T, Tanaka K, Suzuki T (2000) Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase. Nat Genet 25:302-305
54. Hershko A, Ciechanover A (1998) The ubiquitin system. The Annu Rev Biochem 67:425-479
55. Hochstrasser M (1996) Ubiquitin-dependent degradation. Ann Rev Genet 30:405-439
56. Zhang Y, Gao J, Chung KK, Huang H, Dawson VL, Dawson TM (2000) Parkin functions as an E2 dependent ubiquitin-protein ligase and promotes the degradation of the synaptic vesicle associated protein, CDCrel-1. Proc Natl Acad Sci USA 97:13354-13359
57. Imai Y, Soda M, Inoue H, Hattori H, Mizuno Y, Takahashi R (2001) An unfolded putative transmembrane polypeptide, which can lead to endoplasmic reticulum stress, is a substrate of Parkin. Cell 105:891-902
58. Chung KK, Zhnag 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. Nature Med 7:1144-1150
59. Shimiura H, Schlossmacher MG, Hattori N, Frosch MP, Trockenbacher A, Schneider R, Mizuno Y, Kosik KS, Selkoe DJ (2001) Ubiquitination of a novel form of α-synuclein by parkin from human brain: implications for Parkinson disease. Science 293: 263-269
60. Staropoli JF, McDermott C, Martinat C, Schulman B, Demireva E, Abeliovich A (2003) Parkin is a component of an SCF-like ubiquitin ligase complex and protects postmitotic neurons from kainite excitotoxicity. Neuron 37:735-749
61. Ren Y, Zhao J, Feng J (2003) Parkin binds to a/b tubulin and increases their ubiquitination and degradation. J Neurosci 23:3316-3324
62. Fallon L, Moreau F, Croft BG, Labib N, Gu WJ, Fon EA (2002) Parkin and CASK/LIN-2 associate via a PDZ-mediated interaction and are co-localized in lipid rafts and postsynaptic densities in brain J Biol Chem 277:486-491
63. Sakata E, Yamaguchi Y, Kurimoto E, Kikuchi J, Yokoyama S, Yamada S, Kawahara H, Yokosawa H, Hattori N, Mizuno Y, Tanaka K, Kato K (2003) Parkin binds the Rpn 10 subunit of 26S proteasomes through its ubiquitin-like domain. EMBO reports 4:301-306
64. Mori H, Kondo T, Yokochi M, Matsumine H, Nakagawa-Hattori Y, Miyake T, Suda K, Mizuno Y (1998) Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q. Neurology 51:890-892
65. Farrer M, Chan P, Chen R, Tan L, Lincoln S, Hernandez D, Forno L, Gwinn-Hardy K, Petrucelli L, Hussey J, Singleton A, Tanner C, Hardy J, Langston JW (2001) Lewy bodies and parkinsonism in families with parkin mutations. Ann Neurol 50:293-300
66. van de Warrenburg BP, Lammens M, Lucking CB, Denefle P, Wesseling P, Booij J, Praamstra P, Quinn N, Brice A, Horstink MW (2001) Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations. Neurology 56:555-557
67. Yang T, Nishimura I, Imai Y, Takahashi R, Lu B (2003) parkin suppressed dopaminergic neuron-selective neurotoxicity induced by Pael-R in Dorosophila. Neuron 37:911-24
68. Zhang J, Hattori N, Leroy E, Morris HR, Kubo S, Kobayashi T, Wood NW, Polymeropoulos MH, Mizuno Y (2000) Association between a polymorphism of ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) gene and sporadic parkinson's disease. Parkinsonism Related 6:199-200
69. Momose Y, Murata M, Kobayashi K, Tachikawa M, Nakabayashi Y, Kanazawa I, Toda T (2002) Association studies of multiple candidate genes for Parkinson's disease using single nucleotide polymorphisms. Ann Neurol 51:133-136 [Erratum in: Ann Neurol 5:534]
70. Larsen CN, Krantz BA, Wilkinson KD (1998) Substrate specificity of deubiquitinating enzymes: ubiquitin C-terminal hydrolases. Biochemistry 37: 3358-3368
71. Lowe J, McDermott H, Landon M, Mayer RJ, Wilkinson KD (1990) Ubiquitin carboxyl-terminal hydrolase (PGP 9.5) is selectively present in ubiquitinated inclusion bodies characteristic of human neurodegenerative diseases. J Pathol 161:153-160
72. Liu Y, Fallon L, Lashuel HA, Liu Z, Lansbury PT (2002) The UCH-L1 gene encodes two opposing enzymatic activities that affect α-synuclein degradation and parkinson's disease susceptibility. Cell 111:209-218
73. Nagakubo D, Taira T, Kitaura H, Ikeda M, Tamai K, Iguchi-Ariga SM, Ariga H (1997) DJ-1, a novel oncogene which transforms mouse NIH3T3 cells in cooperation with ras. Biochem Biophys Res Commun 231:509-513
74. Okada M, Matsumoto K, Niki T, Taira T, Iguchi-Ariga SM, Ariga H (2002) DJ-1, a target protein for an endocrine disrupter, participates in the fertilization in mice. Biol Pharm Bull 25: 853-856
75. Dekker M, Bonifati V, Van Swieten J, Leenders N, Galjaard RJ, Snijders P, Horstink M, Heutink P, Oostra B, Van Duijn C (2003) Clinical features and neuroimaging of PARK7-linked parkinsonism Mov Disord 18:751-757
76. Mitsumoto A, Nakagawa Y (2001) DJ-1 is an indicator for endogenous reactive oxygen species elicited by endotoxin. Free Radic Res 35:885-893
77. Mitsumoto A, Nakagawa Y, Takeuchi A, Okawa K, Iwamatsu A, Takanezawa Y (2001) Oxidized forms of peroxiredoxins and DJ-1 on two-dimensional gels increased in response to sublethal levels of paraquat. Free Radic Res 35: 301-310
78. Takahashi K, Taira T, Niki T, Seino C, Iguchi-Ariga SM, Ariga H (2001) DJ-1 positively regulates the androgen receptor by impairing the binding of PI-ASx alpha to the receptor. J Biol Chem 276:37556-37563
79. Jin C, Shiyanova T, Shen Z, Liao, X (2001) Heteronuclear nuclear magnetic resonance assignments, structure and dynamics of SUMO-1, a human ubiquitin-like protein. Int J Biol Macromol 28:227-234
80. Yeh ET, Gong L, Kamitani T(2000) Ubiquitin-like proteins: new wines in new bottles. Gene (Amst) 248:1-14
81. Hay RT (2001) Protein modification by SUMO. Trends Biochem Sci 26:332-333
82. Desterro JM, Rodgriguez MS, Hay RT (1998) SUMO-1 modification of IkappaBalpha inhibits NF-kappaB activation. Mol Cell 2:233-239
83. Pichler A, Melchior F (2002) Ubiquitin-related modifier SUMO1 and nucleocytoplasmic transport. Traffic 3: 381-387
84. Mahajan R, Delphin C, Guan T, Gerace L, Melchior F (1997) A small ubiquitin-related polypeptide involved in targeting RanGAP1 to nuclear pore complex protein RanBP2. Cell 88:97-107