Huntingtin processing in pathogenesis of Huntington disease

Acta Pharmacologica Sinica

Volumn 25, Issue 10, 2004, Pages 1243-1249

  Qin, Zheng Hong ^b   Gu, Zhen Lun ^a  

^a MEDICAL COLLEGE OF SOOCHOW UNIVERSITY   (China)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

Autophagy; Calpain; Caspase; Huntingtin; Huntington disease; Neurodegeneration; Proteasome; Protein aggregation

Indexed keywords

CALPAIN; HUNTINGTIN; POLYGLUTAMINE; PROTEASOME; PROTEINASE;

AMINO TERMINAL SEQUENCE; AUTOPHAGY; BRAIN CORTEX; CELL NUCLEUS INCLUSION BODY; CYTOPLASM; ENZYME ACTIVITY; HUMAN; HUNTINGTON CHOREA; LYSOSOME; NERVE PROJECTION; PATHOGENESIS; PROTEIN DEGRADATION; PROTEIN FOLDING; PROTEIN FUNCTION; PROTEIN PROCESSING; PYRAMIDAL NERVE CELL; REVIEW; STRIATE CORTEX;

AUTOPHAGY; CALPAIN; CASPASES; CELL AGGREGATION; HUMANS; HUNTINGTON DISEASE; INCLUSION BODIES; MUTATION; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; PEPTIDES; PROTEIN PROCESSING, POST-TRANSLATIONAL;

EID: 5444231258     PISSN: 16714083     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (59)

1. Ferrante RJ, Kowall NW, Beal MF, Richardson EP Jr, Bird ED, Martin JB. Selective sparing of a class of striatal neurons in Huntington's disease. Science 1985; 230: 561-3.
2. Gusella JF, MacDonald ME. Huntington's disease. Semin Cell Biol 1995; 6: 21-8.
3. Bhide PG, Day M, Sapp E, Schwarz C, Sheth A, Kim J, et al. Expression of normal and mutant huntingtin in the developing brain. J Neurosci 1996; 16: 5523-35.
4. Sapp E, Schwarz C, Chase K, Bhide PG, Young AB, Penney J, et al. Huntingtin localization in brains of normal and Huntington's disease patients. Ann Neurol 1997; 42: 604-12.
5. DiFiglia M, Sapp E, Chase K, Schwarz C, Meloni A, Young C, et al. Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons. Neuron 1995; 14: 1075-81.
6. White JK, Auerbach W, Duyao MP, Vonsattel JP, Gusella JF, Joyner AL, et al. Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion. Nat Genet 1997; 17: 404-10.
7. Aronin N, Kim M, Laforet G, DiFiglia M. Are there multiple pathways in the pathogenesis of Huntington's disease. Phil Trans R Sco Lond 1999; 354: 995-1003.
8. Waelter S, Boeddrich A, Lurz R, Scherzinger E, Lueder G, Lehrach H, et al. Accumulation of mutant huntingtin fragments in aggresome-like inclusion bodies as a result of insufficient protein degradation. Mol Biol Cell 2001; 12: 1393-407.
9. Chen S, Berthelier V, Hamilton JB, O'Nuallain B, Wetzel R. Amyloid-like features of polyglutamine aggregates and their assembly kinetics. Biochemistry 2002; 41: 7391-9.
10. Alnemri ES. Mammalian cell death proteases: a family of highly conserved aspartate specific cysteine proteases. J Cell Biochem 1997; 64: 33-42.
11. Green D, Kroemer G. The central executioners of apoptosis: caspases or mitochondria? Trends Cell Biol 1998; 8: 267-71.
12. Thornberry NA. The family of cysteine proteases. Br Med Bull 1996; 53: 478-90.
13. Salvesen GS, Dixit VM. Caspases:intracellular signaling by proteolysis. Cell 1997; 91: 442-6.
14. Thornberry NA, Lazebnik Y. Caspases: enemies within. Science 1998; 281: 312-6.
15. Zhuang S, Lynch MC. Kochevar IE. Caspase-8 mediates caspase-3 activation and cytochrome c release during singlet oxygen-induced apoptosis of HL-60 cells. Exp Cell Res 1999; 250: 203-12.
16. Juo P, Kuo CJ, Yuan J, Blenis J. Essential requirement for caspase-8/FLICE in the initiation of the Fas-induced apoptotic cascade. Curr Biol 1998; 8: 1001-8.
17. Slee EA, Harte MT, Kluck RM, Wolf BB, Casiano CA, Newmeyer DD, et al. Ordering the cytochrome c-initiated caspase cascade: hierarchical activation of caspases-2, -3, -6, -7, -8, and -10 in a caspase-9-dependent manner. J Cell Biol 1999; 144: 281-92.
18. Goldberg YP, Nicholson DW, Rasper DM, Kalchman MA, Koide HB, Graham RK, et al. Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract. Nat Genet 1996; 13: 442-9.
19. Wellington CL, Ellerby LM, Hacham AS, Margolis RL, Trifiro MA, Singaraja R, et al. Casapase cleavage of gene products associated with trplet expasion disorders truncated fragments containing the poltgluaymine tract. J Biol Chem 1998; 273: 9158-67.
20. Sanchez I, Xu CJ, Juo P, Kakizaka A, Blenis J, Yuan J. Caspase-8 is required for cell death induced by expanded polyglutamine repeats. Neuron 1999; 22: 623-33.
21. Zeron MM, Fernandes HB, Krebs C, Shehadeh J, Wellington CL, Leavitt BR, et al. Potentiation of NMDA receptor-mediated excitotoxicity linked with intrinsic apoptotic pathway in YAC transgenic mouse model of Huntington's disease. Mol Cell Neurosci 2004; 24: 469-79.
22. Kim M, Lee HS, LaForet G, McIntyre C, Martin EL, Chang P, et al. Mutant huntingtin expression in clonal striatal cells: dissociation of inclusion formation and neuronal survival by caspase inhibition. J Neurosci 1999; 19: 964-73.
23. Wang GH, Mitsui K, Kotliarova S, Yamashita A, Nagao Y, Tokuhiro S, et al. Caspase activation during apoptotic cell death induced by expanded polyglutamine in N2a cells. NeuroReport 1999; 10: 2435-8.
24. Ona VO, Li M, Vonsattel JP, Andrews LJ, Khan SQ, Chung WM, et al. Inhibition of caspase-1 slows disease progression in a mouse model of Huntington's disease. Nature 1999; 399: 263-7.
25. Chen M, Ona VO, Li M, Ferrante RJ, Fink KB, Zhu S, et al. Minocycline inhibits caspase-1 and caspase-3 expression and delays mortality in a transgenic mouse model of Huntington disease. Nat Med 2000; 6: 797-801.
26. Sieradzan KA, Mechan AO, Jones L, Wanker EE, Nukina N, Mann DM. Huntington's disease intranuclear inclusions contain truncated, ubiquitinated huntingtin protein. Exp Neurol 1999; 156: 92-9.
27. Wellington CL, Singaraja R, Ellerby L, Savill J, Roy S, Leavitt B, et al. Inhibiting caspase cleavage of huntingtin reduces toxicity and aggregate formation in neuronal and nonneuronal cells. J Biol Chem 2000; 275: 19831-8.
28. Davies SW, Turmaine M, Cozens BA, DiFiglia M, Sharp AH, Ross CA, et al. Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Cell 1997; 90: 537-48.
29. DiFiglia M, Sapp E, Chase O, Davies SW, Bates GP, Vonsattel JP, et al. Aggregation of Huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 1997; 277: 1990-3.
30. Scherzinger E, Lurz R, Turmaine M, Maggiarini L, Hollenbach B, Hasenbank R, et al. Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo. Cell 1997; 90: 549-58.
31. Hermel E, Gafni J, Propp SS, Leavitt BR, Wellington CL, Young JE, et al. Specific caspase interactions and amplification are involved in selective neuronal vulnerability in Huntington's disease. Cell Death Differ 2004; 4: 1-15.
32. Bizat N, Hermel JM, Boyer F, Jacquard C, Creminon C, Ouary S, et al. Calpain is a major cell death effector in selective striatal degeneration induced in vivo by 3-nitropropionate: implications for Huntington's disease. J Neurosci 2003; 23: 5020-30.
33. Goffredo D, Rigamonti D, Tartari M, Micheli AD, Verderio C, Matteoli M, et al. Calcium-dependent cleavage of endogenous wild-type huntingtin in primary cortical neurons. J Biol Chem 2002; 277: 39594-8.
34. Kim M, Roh JK, Yoon BW, Rang L, Kim YJ, Aronin N, et al. Huntingtin is degraded to small fragments by calpain after ischemic injury. Exp Neurol 2003; 183: 109-15.
35. Gafni J, Ellerby LM. Calpain activation in Huntington's disease. J Neurosci 2002; 22: 4842-9.
36. Sieradzan KA, Mechan AO, Jones L, Wanker EE, Nukina N, Mann DMA. Huntington's disease intranuclear inclusions contain truncated, ubiquitinated huntingtin protein. Exp Neurol 1999; 156: 92-9.
37. Gafni JG, Hermel E, Young JE, Wellington CL, Hayden MR, Ellerby LM. Inhibition of calpain cleavage of huntingtin reduces toxicity, accumulation of calpain/caspase fragments in the nucleus. J Biol Chem 2004; 279: 20211-20.
38. Voges D, Zwickl P, Baumeister W. The 26S proteasome: a molecular machine designed for controlled proteolysis. Annu Rev Biochem 1999; 68: 1015-68.
39. Goldberg AL. Protein degradation and protection against misfolded or damaged proteins. Nature 2003; 426: 885-99.
40. Kalchman MA, Graham RK, Xia G, Koide HB, Hodgson JG, Graham KC, et al. Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme. J Biol Chem 1996; 271: 19385-94.
41. Waelter S, Boeddrich A, Lurz R, Scherzinger E, Lueder G, Lehrach H, et al. Accumulation of mutant huntingtin fragments in aggresome-like inclusion bodies as a result of insufficient protein degradation. Mol Biol Cell 2001; 12: 1393-407.
42. Zhou H, Cao F, Wang Z, Yu ZX, Nguyen HP, Evans J, et al. 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.
43. Muchowski PJ, Schaffar G, Sittler A, Wanker EE, Hayer-Hart MK, Hartl FU. Hsp70 and Hsp40 chaperones can inhibit self-assembly of polyglutamine proteins into amyloid-like fibrils. Proc Natl Acad Sci USA 2000; 97: 7841-6.
44. Glaumann H, Ericsson JL, Marzella L. Mechanisms of intralysosomal degradation with special reference to autophagocytosis and heterophagocytosis of cell organelles. Intl Rev Cytol 1981; 73: 149-82.
45. Kim J, Klionsky DJ. Autophagy, cytoplasm-to-vacuole targeting pathway, and pexophagy in yeast and mammalian cells. Annu Rev Biochem 2000; 69: 303-42.
46. Noda T, Suzuki K, Ohsumi Y. Yeast autophagosomes: de novo formation of a membrane structure. Trends Cell Biol 2002; 12: 231-5.
47. Xue L, Fletcher GC, Tolkovsky AM. Autophagy is activated by apoptotic signalling in sympathetic neurons: an alternative mechanism of death execution. Mol Cell Neurosci 1999; 14: 180-98.
48. Jeffrey M, Scott JR, Williams A, Fraser H. Ultrastructural features of spongiform encephalopathy transmitted to mice from three species of bovidae. Acta Neuropathol (Berl) 1992; 84: 559-69.
49. Hirai K, Aliev G, Nunomura A, Fujioka H, Russell RL, Atwood CS, et al. Mitochondrial abnormalities in Alzheimer's disease. J Neurosci 2001; 21: 3017-23.
50. Stefanis L, Larsen KE, Rideout HJ, Sulzer D, Greene LA. Expression of A53T mutant but not wild-type a-Synuclein in PC12 cells induces alterations of the ubiquitin-dependent degradation system, loss of dopamine release, and autophagic cell death. J Neurosci 2001; 21: 9549-60.
51. Kegel KB, Kim M, Sapp E, McIntyre C, Castaño JG, Aronin N, et al. Huntingtin expression stimulates endosomal-lysosomal activity, endosome tubulation, and autophagy. J Neurosci 2000; 20: 7268-78.
52. Petersen A, Larsen KE, Behr GG, Romero N, Przedborski S, Brundin P, et al. Expanded CAG repeats in exon 1 of the Huntington's disease gene stimulate dopamine-mediated striatal neuron autophagy and degeneration. Hum Mol Genet 2001; 10: 1243-54.
53. Ravikumar B, Duden R, Rubinsztein DC. Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy. Hum Mol Gen 2002; 11: 1107-17.
54. Qin ZH, Wang Y, Kegel KB, Kazantsev A, Apostol BL, Thompson LM, et al. Autophagy regulates the processing of amino terminal huntingtin fragments. Hum Mol Gen 2003; 12: 3231-44.
55. Qin ZH, Wang Y, Sapp E, Cuiffo B, Erich Wanker E, Hayden MR, et al. Huntingtin bodies sequester vesicle-associated proteins by a polyproline-dependent interaction. J Neurosci 2004; 24: 269-81.
56. Gauthier LR, Charrin BC, Borrell-Page M, Dompierre JP, Rangone H, Cordelie'res F, et al. Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules. Cell 2004; 118: 127-38.
57. Poirier MA, Li H, Macosko J, Cai S, Amzel M, Ross CA. Huntingtin spheroids and protofibrils as precursors in polyglutamine fibrilization. J Biol Chem 2002; 277: 41032-7.
58. Gafni J, Hermel E, Young JE, Wellington CL, Hayden MR, Ellerby LM. Inhibition of calpain cleavage of huntingtin reduces toxicity; accumulation of calpain/caspase fragments in the nucleus. J Biol Chem 2004; 279: 20211-20.
59. Ravikumar B, Vacher C, Berger Z, Davies JE, Luo S, Oroz LG, et al. Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease. Nat Genet 2004; 36: 585-95.