Polyglutamine protein trafficking and neurodegeneration

Current Genomics

Volumn 6, Issue 3, 2005, Pages 189-194

  McGuire, John R ^a   Li, Shi Hua ^a   Li, Xiao Jiang ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR; ATAXIN 1; ATAXIN 2; ATAXIN 3; ATAXIN 7; ATROPHIN 1; CARRIER PROTEIN; HUNTINGTIN; POLYGLUTAMINE; PROTEIN DERIVATIVE; TATA BINDING PROTEIN; UNCLASSIFIED DRUG;

CELL INCLUSION; CELL NUCLEUS INCLUSION BODY; DEGENERATIVE DISEASE; DENDRITE; DENTATORUBROPALLIDOLUYSIAN ATROPHY; GENETIC DISORDER; HUMAN; HUNTINGTON CHOREA; INTRACELLULAR TRANSPORT; KENNEDY DISEASE; NERVE DEGENERATION; NERVE FIBER DEGENERATION; NERVE FIBER TRANSPORT; NEUROPATHOLOGY; NONHUMAN; PATHOGENESIS; PROTEIN AGGREGATION; PROTEIN PROTEIN INTERACTION; PROTEIN TRANSPORT; REVIEW; SPINOCEREBELLAR DEGENERATION; TRANSCRIPTION REGULATION;

EID: 19944401217     PISSN: 13892029     EISSN: None     Source Type: Journal    
DOI: 10.2174/1389202053971938     Document Type: Review

References (60)

1. Zoghbi, H. Y. and Orr, H. T. Glutamine repeats and neurodegeneration. Annu. Rev. Neurosci. 2000, 23: 217-47.
2. Li, S. H. and Li, X. J. Huntingtin-protein interactions and the pathogenesis of Huntington's disease. Trends Genet. 2004, 20: 146-54.
3. Morfini, G., Pigino, G. and Brady, S. T. Polyglutamine expansion diseases: failing to deliver. Trends Mol. Med. 2005, 11: 64-70.
4. Gunawardena, S. and Goldstein, L. S. Polyglutamine diseases and transport problems: deadly traffic jams on neuronal highways. Arch. Neurol. 2005, 62: 46-51.
5. DiFiglia, M., Sapp, E., Chase, K. O., Davies, S. W., Bates, G. P., Vonsattel, J. P. and Aronin, N. Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 1997, 277: 1990-3.
6. Davies, S. W., Turmaine, M., Cozens, B. A., DiFiglia, M., Sharp, A. H., Ross, C. A., Scherzinger, E., Wanker, E. E., Mangiarini, L. and Bates, G. P. Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Cell 1997, 90: 537-48.
7. Ishikawa, K., Owada, K., Ishida, K., Fujigasaki, H., Shun Li, M., Tsunemi, T., Ohkoshi, N., Toru, S., Mizutani, T., Hayashi, M., et al. Cytoplasmic and nuclear polyglutamine aggregates in SCA6 Purkinje cells. Neurology 2001, 56: 1753-6.
8. Pang, J. T., Giunti, P., Chamberlain, S., An, S. F., Vitaliani, R., Scaravilli, T., Martinian, L., Wood, N. W., Scaravilli, F. and Ansorge, O. Neuronal intranuclear inclusions in SCA2: a genetic, morphological and immunohistochemical study of two cases. Brain 2002, 125: 656-63.
9. Cornett, J., Cao, F., Wang, C. E., Ross, C. A., Bates, G. P., Li, S. H. and Li, X. J. Polyglutamine expansion of huntingtin impairs its nuclear export. Nat. Genet. 2005, 37: 198-204.
10. Gutekunst, C. A., Li, S. H., Yi, H., Mulroy, J. S., Kuemmerle, S., Jones, R., Rye, D., Ferrante, R. J., Hersch, S. M. and Li, X. J. Nuclear and neuropil aggregates in Huntington's disease: relationship to neuropathology. J. Neurosci. 1999, 19: 2522-34.
11. Li, H., Li, S. H., Cheng, A. L., Mangiarini, L., Bates, G. P. and Li, X. J. Ultrastructural localization and progressive formation of neuropil aggregates in Huntington's disease transgenic mice. Hum. Mol. Genet. 1999, 8: 1227-36.
12. Li, H., Li, S. H., Johnston, H., Shelbourne, P. F. and Li, X. J. Amino-terminal fragments of mutant huntingtin show selective accumulation in striatal neurons and synaptic toxicity. Nat. Genet. 2000, 25: 385-9.
13. Piccioni, F., Pinton, P., Simeoni, S., Pozzi, P., Fascio, U., Vismara, G., Martini, L., Rizzuto, R. and Poletti, A. Androgen receptor with elongated polyglutamine tract forms aggregates that alter axonal trafficking and mitochondrial distribution in motor neuronal processes. FASEB J. 2002, 16: 1418-20.
14. Hayashi, M., Kobayashi, K. and Furuta, H. Immunohistochemical study of neuronal intranuclear and cytoplasmic inclusions in Machado-Joseph disease. Psychiatry Clin. Neurosci. 2003, 57: 205-13.
15. Zander, C., Takahashi, J., El Hachimi, K. H., Fujigasaki, H., Albanese, V., Lebre, A. S., Stevanin, G., Duyckaerts, C. and Brice, A. Similarities between spinocerebellar ataxia type 7 (SCA7) cell models and human brain: proteins recruited in inclusions and activation of caspase-3. Hum. Mol. Genet. 2001, 10: 2569-79.
16. Nakamura, K., Jeong, S. Y., Uchihara, T., Anno, M., Nagashima, K., Nagashima, T., Ikeda, S., Tsuji, S. and Kanazawa, I. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum. Mol. Genet. 2001, 10: 1441-8.
17. Lee, W. C., Yoshihara, M. and Littleton, J. T. Cytoplasmic aggregates trap polyglutamine-containing proteins and block axonal transport in a Drosophila model of Huntington's disease. Proc. Natl. Acad. Sci. USA 2004, 101: 3224-9.
18. Hackam, A. S., Singaraja, R., Wellington, C. L., Metzler, M., McCutcheon, K., Zhang, T., Kalchman, M. and Hayden, M. R. The influence of huntingtin protein size on nuclear localization and cellular toxicity. J. Cell Biol. 1998, 141: 1097-105.
19. Yu, Z. X., Li, S. H., Evans, J., Pillarisetti, A., Li, H. and Li, X. J. Mutant huntingtin causes context-dependent neurodegeneration in mice with Huntington's disease. J. Neurosci. 2003, 23: 2193-202.
20. Li, S. H., Gutekunst, C. A., Hersch, S. M. and Li, X. J. Interaction of huntingtin-associated protein with dynactin P15OGlued. J. Neurosci. 1998, 18: 1261-9.
21. Cooper, J. K., Schilling, G., Peters, M. F., Herring, W. J., Sharp, A. H., Kaminsky, Z., Masone, J., Khan, F. A., Delanoy, M., Borchelt, D. R., et al. Truncated N-terminal fragments of huntingtin with expanded glutamine repeats form nuclear and cytoplasmic aggregates in cell culture. Hum. Mol. Genet. 1998, 7: 783-90.
22. Zhou, H., Cao, F., Wang, Z., Yu, Z. X., Nguyen, H. P., Evans, J., Li, S. H. and Li, X. J. Huntingtin forms toxic NH2-terminal fragment complexes that are promoted by the age-dependent decrease in proteasome activity. J. Cell Biol. 2003, 163: 109-18.
23. Schilling, G., Becher, M. W., Sharp, A. H., Jinnah, H. A., Duan, K., Kotzuk, J. A., Slunt, H. H., Ratovitski, T., Cooper, J. K., Jenkins, N. A., et al. Intranuclcar inclusions and neuritic aggregates in transgenic mice expressing a mutant N-terminal fragment of huntingtin,.Hum. Mol. Genet. 1999, 8: 397-407.
24. Wheeler, V. C., White, J. K., Gutekunst, C. A., Vrbanac, V., Weaver, M., Li, X. J., Li, S. H., Yi, H., Vonsattel, J. P., Gusella, J. F., et al. Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice. Hum. Mol. Genet. 2000, 9: 503-13.
25. Lin, C. H., Tallaksen-Greene, S., Chien, W. M., Cearley, J. A., Jackson, W. S., Crouse, A. B., Ren, S., Li, X. J., Albin, R. L. and Detloff, P. J. Neurological abnormalities in a knock-in mouse model of Huntington's disease. Hum. Mol. Genet. 2001, 10: 137-44.
26. Li, H., Li, S. H., Yu, Z. X., Shelbourne, P. and Li, X. J. Huntingtin aggregate-associated axonal degeneration is an early pathological event in Huntington's disease mice. J. Neurosci. 2001, 21: 8473-81.
27. Nucifora, F. C., Jr., Sasaki, M., Peters, M. F., Huang, H., Cooper, J. K., Yamada, M., Takahashi, H., Tsuji, S., Troncoso, J., Dawson, V.L., et al. Interference by huntingtin and atrophin-1 with cbp-mediated transcription leading to cellular toxicity. Science 2001, 291: 2423-8.
28. Steffan, J. S., Kazantsev, A., Spasic-Boskovic, O., Greenwald, M., Zhu, Y. Z., Gohler, H., Wanker, E. E., Bates, G. P., Housman, D. E. and Thompson, L. M. The Huntington's disease protein interacts with p53 and CREB-binding protein and represses transcription. Proc. Natl. Acad. Sci. USA 2000, 97: 6763-8.
29. Bennett, E. J., Bence, N. F., Jayakumar, R. and Kopito, R. R. Global impairment of the ubiquitin-proteasome system by nuclear or cytoplasmic protein aggregates precedes inclusion body formation. Mol. Cell 2005, 17: 351-65.
30. Sadou, F., Finkbeiner, S., Devys, D., Greenberg, M.E. Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions. Cell 1998, 95: 55-66.
31. Arrasate, M., Mitra, S., Schweitzer, E. S., Segal, M. R. and Finkbeiner, S. Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death. Nature 2004, 431: 805-10.
32. Gunawardena, S., Her, L. S., Brusch, R. G., Laymon, R. A., Niesman, I. R., Gordesky-Gold, B., Sintasath, L., Bonini, N. M. and Goldstein, L. S. Disruption of axonal transport by loss of huntingtin or expression of pathogenic polyQ proteins in Drosophila. Neuron 2003, 40: 25-40.
33. Sapp, E., Penney, J., Young, A., Aronin, N., Vonsattel, J. P. and DiFiglia, M. Axonal transport of N-terminal huntingtin suggests early pathology of corticostriatal projections in Huntington disease. J. Neuropathol. Exp. Neurol. 1999, 58: 165-73.
34. Kalchman, M. A., Koide, H. B., McCutcheon, K., Graham, R. K., Nichol, K., Nishiyama, K., Kazemi-Esfarjani, P., Lynn, F. C., Wellington, C., Metzler, M., et al. HIP1, a human homologue of S. cerevisiae S1a2p, interacts with membrane-associated huntingtin in the brain. Nat. Genet. 1997, 16: 44-53.
35. Metzler, M., Legendre-Guillemin, V., Gan, L., Chopra, V., Kwok, A., McPherson, P. S. and Hayden, M. R. HIP1 functions in clathrin-mediated endocytosis through binding to clathrin and adaptor protein 2. J. Biol. Chem. 2001, 276: 39271-6.
36. Waelter, S., Scherzinger, E., Hasenbank, R., Nordhoff, E., Lurz, R., Goehler, H., Gauss, C., Sathasivam, K., Bates, G. P., Lehrach, H. and Wanker, E. E. The huntingtin interacting protein HIP1 is a clathrin and alpha-adaptin-binding protein involved in receptor-mediated endocytosis. Hum. Mol. Genet. 2001, 10: 1807-17.
37. Mishra, S. K., Agostinelli, N. R., Brett, T. J., Mizukami, I., Ross, T. S. and Traub, L. M. Clathrin- and AP-2-binding sites in HIP1 uncover a general assembly role for endocytic accessory proteins. J. Biol. Chem. 2001, 276: 46230-6.
38. Huang, K., Yanai, A., Kang, R., Arstikaitis, P., Singaraja, R. R., Metzler, M., Mullard, A., Haigh, B., Gauthier-Campbell, C., Gutekunst, C. A., et al. Huntingtin-interacting protein HIP14 is a palmitoyl transferase involved in palmitoylation and trafficking of multiple neuronal proteins. Neuron 2004, 44: 977-86.
39. Engelender, S., Sharp, A. H., Colomer, V., Tokito, M. K., Lanahan, A., Worley, P., Holzbaur, E. L. and Ross, C. A. Huntingtin-associated protein 1 (HAP1) interacts with the p150Glued subunit of dynactin. Hum. Mol. Genet. 1997, 6: 2205-12.
40. Stowers, R. S., Megeath, L. J., Gorska-Andrzejak, J., Meinertzhagen, I. A. and Schwarz, T. L. Axonal transport of mitochondria to synapses depends on milton, a novel Drosophila protein. Neuron 2002, 36: 1063-77.
41. Gauthier, L. R., Charrin, B. C., Borrell-Pages, M., Dompierre, J. P., Rangone, H., Cordelieres, F. P., De Mey, J., MacDonald, M. E., Lessmann, V., Humbert, S. and Saudou, F. Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules. Cell 2004, 118: 127-38.
42. Gutekunst, C. A., Li, S. H., Yi, H., Ferrante, R. J., Li, X. J. and Hersch, S. M. The cellular and subcellular localization of huntingtin-associated protein 1 (HAP1): comparison with huntingtin in rat and human. J. Neurosci. 1998, 18: 7674-86.
43. Block-Galarza, J., Chase, K. O., Sapp, E., Vaughn, K. T., Vallee, R. B., DiFiglia, M. and Aronin, N. Fast transport and retrograde movement of huntingtin and HAP 1 in axons. Neuroreport 1997, 8: 2247-51.
44. Evert, B.O., Vogt, I.R., Vieira-Saecker, A.M., Ozimek, L., de Vos, R.A., Brunt, E.R., Klockgether, T. and Wullner, U. Gene expression profiling in ataxin-3 expressing cell lines reveals distinct effects of normal and mutant ataxin-3. J. Neuropathol. Exp. Neurol. 2003, 62: 1006-1018.
45. Chan, E.Y., Luthi-Carter, R., Strand, A., Solano, S.M., Hanson, S.A., DeJohn, M.M., Kooperberg, C., Olson, J.M. and Cattaneo, E. Increased huntingtin protein length reduces the number of polyglutamine-induced gene expression changes in mouse models of Huntington's disease. Hum. Mol. Genet. 2002, 1: 1939-1951
46. Luthi-Carter, R., Strand, A.D., Hanson, S.A., Kooperberg, C., Schilling, G., La Spada, A.R., Merry, D.E., Young, A.B., Ross, C.A., Borchelt, D.R. and Olson, J.M. Polyglutamine and transcription: gene expression changes shared by DRPLA and Huntington's disease mouse models reveal context-independent effects. Hum. Mol. Genet. 2002, 11: 1927-1937
47. Sugars, K.L., Rubinsztein, D.C. Transcriptional abnormalities in Huntington Disease. Trends Genet. 2003, 19: 233-238
48. Szebenyi, G., Morfini, G. A., Babcock, A., Gould, M., Selkoe, K., Stenoien, D. L., Young, M., Faber, P. W., MacDonald, M. E., McPhaul, M. J. and Brady, S. T. Neuropathogenic forms of huntingtin and androgen receptor inhibit fast axonal transport. Neuron 2003, 40: 41-52.
49. Trushina, E., Dyer, R. B., Badger, J. D., 2nd, Ure, D., Eide, L., Tran, D. D., Vrieze, B. T., Legendre-Guillemin, V., McPherson, P. S., Mandavilli, B. S., et al. Mutant huntingtin impairs axonal trafficking in Mammalian neurons in vivo and in vitro. Mol. Cell Biol. 2004, 24: 8195-209.
50. Parker, J. A., Connolly, J. B., Wellington, C., Hayden, M., Dausset, J. and Neri, C. Expanded polyglutamines in Caenorhabditis elegans cause axonal abnormalities and severe dysfunction of PLM mechanosensory neurons without cell death. Proc. Natl. Acad. Sci. USA 2001, 98: 13318-23.
51. Parker, J. A., Arango, M., Abderrahmane, S., Lambert, E., Tourette, C., Catoire, H. and Neri, C. Resveratrol rescues mutant polyglutamine cytotoxicity in nematode and mammalian neurons. Nat. Genet. 2005, 37: 349-50.
52. Menalled, L. B., Sison, J. D., Wu, Y., Olivieri, M., Li, X. J., Li, H., Zeitlin, S. and Chesselet, M. F. Early motor dysfunction and striosomal distribution of huntingtin microaggregates in Huntington's disease knock-in mice. J. Neurosci. 2002, 22: 8266-76.
53. Coleman, M. P. and Perry, V. H. Axon pathology in neurological disease: a neglected therapeutic target. Trends Neurosci. 2002, 25: 532-7.
54. Raff, M. C., Whitmore, A. V. and Finn, J. T. Axonal self-destruction and neurodegeneration. Science 2002, 296: 868-71.
55. Li, M., Miwa, S., Kobayashi, Y., Merry, D. E., Yamamoto, M., Tanaka, F., Doyu, M., Hashizume, Y., Fischbeck, K. H. and Sobue, G. Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy. Ann. Neurol. 1998, 44: 249-54.
56. Igarashi, S., Koide, R., Shimohata, T., Yamada, M., Hayashi, Y., Takano, H., Date, H., Oyake, M., Sato, T., Sato, A., et al. Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch. Nat. Genet. 1998, 18: 111-7.
57. Cummings, C. J., Mancini, M. A., Antalffy, B., DeFranco, D. B., Orr, H. T. and Zoghbi, H. Y. Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1. Nat. Genet. 1998, 19: 148-54.
58. Huynh, D. P., Yang, H. T., Vakharia, H., Nguyen, D. and Pulst, S. M. Expansion of the polyQ repeat in ataxin-2 alters its Golgi localization, disrupts the Golgi complex and causes cell death. Hum. Mol. Genet. 2003, 12: 1485-96.
59. Evert, B. O., Wullner, U., Schulz, J. B., Weller, M., Groscurth, P., Trottier, Y., Brice, A. and Klockgether, T. High level expression of expanded full-length ataxin-3 in vitro causes cell death and formation of intranuclear inclusions in neuronal cells. Hum. Mol. Genet. 1999, 8: 1169-76.
60. Westenbroek, R. E., Sakurai, T., Elliott, E. M., Hell, J. W., Starr, T. V., Snutch, T. P. and Catterall, W. A. Immunochemical identification and subcellular distribution of the alpha IA subunits of brain calcium channels. J. Neurosci. 1995, 15: 6403-18.