Bioenergetics in Huntington's disease

Annals of the New York Academy of Sciences

Volumn 893, Issue , 1999, Pages 203-213

  Grünewald, Thomas ^a   Beal, M Flint ^a,b  

^a WEILL CORNELL MEDICAL COLLEGE   (United States)

^b Department of Obstetrics Gynecology   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FREE RADICAL; GLUTAMIC ACID; HUNTINGTIN; MUTANT PROTEIN; UBIQUITIN;

APOPTOSIS; BIOENERGY; CELL ENERGY; CELL INCLUSION; CELL NUCLEUS; CHROMOSOME 4; CONFERENCE PAPER; DISEASE SEVERITY; ENERGY METABOLISM; GENE MUTATION; HUMAN; HUNTINGTON CHOREA; MITOCHONDRIAL RESPIRATION; NERVE CELL NECROSIS; NERVE DEGENERATION; NERVE EXCITABILITY; NEUROTOXICITY; OXIDATION; OXIDATIVE STRESS; PATHOGENESIS;

EID: 0033373421     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.1999.tb07827.x     Document Type: Conference Paper

References (66)

1. 1. Harper, P.S. 1992. The epidemiology of Huntington's Disease. Hum. Genet. 89: 365.
2. 2. Decruyenaere, M., G. Evers-Kiebooms, A. Boogaerts, J.J. Cassiman, T. Cloostermans, K. Demyttenaere, R. Dom, J.P. Fryns & H. Van Den Berghe. 1995. Predictive for testing Huntington's disease: risk perception, reasons for testing and psychological profile of test applicants. Genet. Couns. 6: 1.
3. 3. Pfianz, S., J.A. Besson, K.P. Ebmeier & S. Simpson. 1991. The clinical manifestation of mental disorder in Huntington's disease: a retrospective case record study of disease progression. Acta Psychiatra. Scand. 83: 53.
4. 4. Bamford, K.A., E.D. Caine, D.K. Kido, C. Cox & I. Shoulson. 1995. A prospective evaluation of cognitive decline in early Huntington's disease: functional and radiographic correlates. Neurology 45: 1867.
5. 5. Lanska, D.J. 1995. George Huntington and hereditary chorea. J. Child Neurol. 10: 46.
6. 6. Vonsattel, J.P., R. H. Myers, T.J. Stevens, R.J. Ferrante, E.D. Bird & E.P.J. Richardson. 1985. Neuropatholigical classification of Huntington's disease. J. Neuropathol. Exp. Neurol. 44: 559.
7. 7. Myer, R.H., J.P. Vonsattel, P.A. Paskevich, D.K. Kiely, T.J. Stevens, L.A. Cupples, E.P.J. Richardson & E.D. Bird. 1991. Decease neuronal and increased oligodendroglial densities in Huntington's disease caudate nucleus. J. Neuropathol. Exp. Neurol. 50: 729.
8. 8. Gilliam, T.C., M. Bucan, M.E. MacDonald, M. Zimmer, J.L. Haines, S.V. Cheng, T.M. Pohl, R.H. Meyers, W.L. Whaley & B.A. Allitto. 1987. A DNA segment encoding two genes very tightly linked to Huntington's disease. Science 238: 950.
9. 9. The Huntington's Disease Collaborative Research Group. 1993. A novel gene containing a trinucleotide repeat that is expended and unstable on Huntington's disease chromosomes. Cell 72: 971.
10. 10. Zeitlin, S., J.P. Liu, D.L. Chapman, V.L. Papaioannou & A. Efstratiadis. 1995. Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue. Nat. Genet. 11: 155.
11. 11. Velier, J., M. Kim, C. Schwarz, T.W. Kim, E. Sapp, K. Chase, N. Aronin & M. Difiglia. 1998. Wild-type and mutant hintingtins function in vesicle trafficking in the secretory and endocytic pathways. Exp. Neurol. 152: 34.
12. 12. DiFiglia, M., E. Sapp, K. Chase, C. Schwarz, A. Meloni, C. Young, E. Martin, J.P. Vonsattel, R. Carraway & S.A. Reeves. 1995. Huntington is a cytoplasmic protein associated with vesicles in human and rat brain neurons. Neuron 14: 1075.
13. 13. Bao, J., A.H. Sharp, M.V. Wagster, M. Becher, G. Schilling, C.A. Ross, V.L. Dawson & T.M. Dawson. 1996. Expansion of polyglutamine repeat in huntingtin leads to abnormal protein interactions involving calmodulin. Proc. Natl. Acad. Sci USA 93: 5037.
14. 14. Becher, M.W., J.A. Kotzuk, A.H. Sharp, S.W. Davies, G.P Bates, D.L. Price & C.A. Ross. 1998. Intranculear neuronal inclusions in Huntington's disease and dentatorubral and pallidoluysian atrophy: correlation between the density of inclusions and IT15 CAG triplet repeat length. Neurobiol. Dis. 4: 387.
15. 15. Davies, S.W., M. Turmaine, B.A. Cozens, M. Difiglia, A.H. Sharp, C.A. Ross, E. Scherzinger, E.E. Wanker, L. Mangiarini & G.P. Bates. 1997. Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Cell 90: 537.
16. 16. DiFiglia, M., E. Sapp, K.O. Chase, S.W. Davies, G.P. Bates, J.P. Vonsattel & N. Aronin. 1997. Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neuntes in brain. Science 277: 1990.
17. 17. Cooper, A.J., K.F. Sheu, J.R. Burke, W.J. Strittmatter, V. Gentile, G. Peluso & J.P. Blass. 1999. Pathogenesis of inclusion bodies in (CAG)n/Qn-expansion diseases with special reference to the role of tissue transglutaminase and to selective vulnerability. J. Neurochem. 72: 889. In press.
18. 18. Saudou, F., S. Finkbeiner, D. Devys & M.E. Greenberg. 1998. Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions. Cell 95: 55.
19. 19. Martindale D., A. Hackam, A. Wieczorek, L. Ellerby, C. Wellington, K. McCutcheon, R. Singaraja, P. Kazemi-Esfarjani, R. Devon, S.U. Kim, D.E. Bredesen, F. Tufaro & M.R. Hayden. 1998. Length of huntingtin and its polyglulamine tract influences localization and frequency of intracellular aggregates. Nat. Genet. 18: 150.
20. 20. Wellington, C.L., L.M. Ellerby, A.S. Hackam, R.L. Margolis, M.A. Trifiro, R. Singaraja, K. McCutcheon, G.S. Salvesen, S.S Propp, M. Bromm, K.J. Rowland, T. Zhang, D. Rasper, S. Roy, N. Thornberry, L. Pinsky, A. Kakizuka, C.A. Ross, D.W. Nicholson, D.E. Bredesen & M.R. Hayden. 1998. Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract. J. Biol. Chem. 273: 9158.
21. 21. Butterworth, N.J., L. Williams, J.Y. Bullock, D.R. Love, R.L. Faull & M. Dragunow. 1998. Trinucleotide (CAG) repeat length is positively correlated with the degree of DNA fragmentation in Huntington's disease striatum. Neuroscience 87: 49.
22. 22. Fusco, F.R., Q. Chen, W.J. Lamoreaux, G. Figueredo-Cardenas, Y. Jiao, J.A. Coffman, D.J. Surmeier, M.G. Honig, L.R. Carlock & A. Reiner. 1999. Cellular localization of huntingtin in striatal and cortical neurons in rats: lack of correlation with neuronal vulnerability in Huntington's disease. J. Neurosci. 19: 1189.
23. 23. Sapp, E., J. Penney, A. Young, N. Aronin, J.P. Vonsattel & M. DiFiglia. 1999. Axonal transport of N-terminal huntingtin suggests early pathology of corticostriatal projections in Huntington disease. J. Neuropathol. Exp. Neurol 58: 165.
24. 24. Beal, M.F. 1996. Mitochondria, free radicals, and neurodegeneration. Curr. Opin. Neurobiol. 6: 661
25. 25. Beal, M.F. 1992. Does impariment of energy metabolism result in excitotoxic neuronal death in neurodegenerative illness? Ann. Neurol. 31: 119.
26. 26. Alavi, A., R. Dann, J. Chawluk, J. Alavi, M. Kushner & M. Reivich. 1986. Positron emission tomography imaging of regional cerebral glucose metabolism. Semin. Nucl. Med. 162: 2.
27. 27. Hayden, M.R., W.R. Martin, A.J. Stoessl, C. Clarke, S. Hollenberg, M.J. Adam, W. Ammann, R. Harrop, J. Rogers & T. Ruth. 1986. Positron emission tomograph in the early diagnosis of Huntington's disease. Neurology 36: 888.
28. 28. Goto, I., T. Taniwaki, S. Hosokawa, M. Otsuka, Y. Ichiya & A. Ichimiya. 1993. Positron emission tomographis (PET) studies in dementia. J. Neurol. Sci 114: 1.
29. 29. Young, A.B., J.B. Penney, S. Starosta-Rubinstein, D.S. Markel, S. Berent, B. Giordani, R. Ehrenkaufer, D. Jewett & R. Hichwa. 1986. PET scan investigations of Huntington's disease: cerebral metabolic correlates of neurological features and functional decline. Ann. Neurol. 20: 296.
30. 30. Andrews, T.C. & D.J. Brooks. 1998. Advances in the understanding of early Huntington's disease using the functional imaging techniques of PET and SPET. Mol. Med. Today 4: 532. In press.
31. 31. Jenkins, B.G., W.J. Koroshetz, M.F. Beal & B.R. Rosen. 1993. Evidence for impairment of energy metabolism in vivo in Huntington's disease using localized 1H NMR spectroscopy. Neurology 43: 2689.
32. 32. Harms, L., H. Meierkord, G. Timm, L. Pfeiffer & A.C. Ludolph. 1997. Decreased N-acetyl-aspartate/choline ratio and increased lactate in the frontal lobe of patients with Huntington's disease: a proton magnetic resonance spectroscopy study. J. Neurol. Neurosurg. Psychiatry 62: 27.
33. 33. Koroshetz, W.J., B.G. Jenkins, B.R. Rosen & M.F. Beal. 1997. Energy metabolism defects in Huntington's desease and effects of coenzyme Q10. Ann. Neurol. 41: 160.
34. 34. O'Brien, C.F. & C. Miller. 1999. Extraneural metabolism in early Huntington's Disease. Ann. Neurol. 28: 300.
35. 35. Gu, M., M.T. Gash, V.M. Mann, F. Agid-Javoy, J.M. Cooper & A.H. Schapira. 1996. Mitochondrial defect in Huntington's Disease caudate nucleus. Ann. Neurol. 39: 85.
36. 36. Browne, S.E., A.C. Bowling, U. MacGarvey, M.J. Baik, S.C. Berger, M.M. Muqit, E.D. Bird & M.F. Beal. 1997. Oxidative damage and metabolic dysfunction in Huntington's Disease: selective vulnerability of the basal ganglia. Ann. Neurol. 41: 646.
37. 37. Tabrizi, S.J., M.W. Cleeter, J. Xuereb, J.W. Taanman, J.M. Cooper & A.H. Schapira. 1999. Biochemical abnormalities and excitotoxicity in Huntington's Disease brain. Ann. Neurol 45: 25.
38. 38. Davey, G.P., S. Peuchen & J.B. Clark. 1998. Energy thresholds in brain mitochondria. Potential involvement in neurodegeneration. J. Biol. Chem. 273: 12753.
39. 39. Parker, W.D.J., S.J. Boyson, A.S. Luder & J.K. Parks. 1990. Evidence for a defect in NADH: ubiquinone oxidoreductase (complex I) in Huntington's Disease (see comments). Neurology 40: 1231.
40. 40. Arenas, J., Y. Campos, R. Ribacoba, M.A. Martin, J.C. Rubio, P. Ablanedo & A. Cabello. 1998. Complex I defect in muscle from patients with Huntington's Disease. Ann. Neurol. 43: 397.
41. 41. Wiegand, C.W., C.A. Callaham, J. Lawler, L.J. Hanle, R.L. Margolis, A.H. Sharp, C.A. Ross, S.H. Snyder & A. Sawa. 1998. Vulnerability of mitochondrial depolarization in lymphoblastoid cells from patients with Huntington's Disease. Soc. Neurosci. 24: 1454.
42. 42. Gutekunst, C.A., T.I. Peng, W.L. Whaley, B. Rock, S.M. Hersch & J.T. Greenamyre. 1996. Mitochondrial calcium homeostasis in Huntington's disease fibroblasts. Soc. Neurosci. 22: 227.
43. 43. Walling, H. W., J. J. Baldassare & T.C. Westfall. 1998. Molecular aspects of Huntington's Disease. J. Neurosci. Res. 54: 301.
44. 44. Sawa, A., L.J. Hanle, L.D. Hester, J.K. Takahashi, J.K. Cooper, V. Colomer, S. Engelender, G. Schilling, J.D. Wood, A. Kakizuka, R. Margolis, A.H. Sharp, C.A. Ross & P.J Snyder. 1999. Glyceraldehyd-3-phosphate dehydrogenase as a positive mediator of cell death; its implications in toxicity of nitric oxide and triplet repeat diseases. Soc. Neurosci. 24. 45.
45. Browne, S.E., R.J. Ferrante & M.F. Beal. 1999. Oxidative stress in Huntington's Disease. Brain Pathol. 9: 147. In press.
46. 46. Przedborski, S. & V. Jackson-Lewis. 1998. Experimental developments in movement disorders: update on proposed free radical mechanisms. Curr. Opin. Neurol. 11: 335.
47. 47. Sian, J., D.T. Dexter, A.J. Lees, S. Daniel, Y. Agid, F. Javoy-Agid, P. Jenner & C.D. Marsden. 1994. Alterations in glutathione levels in Parkinson's Disease and other neurodegenrative disorders affecting basal ganglia (see comments). Ann. Neurol. 36: 348.
48. 48. Beal, M.F. 1994. Neurochemistry and toxin models in Huntington's Disease. Curr. Opin. Neurol. 7: 542.
49. 49. Ludolph, A.C., M. Seelig, A.G. Ludolph, M.I. Sabri & P.C. Spencer. 1992. ATP deficits and neuronal degeneration induced by 3-nitorpionic acid. Ann. N.Y. Acad. Sci. 648: 300.
50. 50. Brouillet, E., P. Hantraye, R.J. Ferrante, R. Dolan, A. Leroy-Willig, N.W. Kowall & M.F. Beal. 1995. Chronic mitochondrial energy impairment produces selective striatal degeneration and abnormal choreiform movements in primates. Proc. Natl. Acad. Sci. USA 92: 7105.
51. 51. Schulz, J.B., R.T. Matthews, M.M. Muqit, S.E. Browne & M.F. Beal. 1995. inhibition of neuronal nitric oxide synthase by 7-nitroindazole protects against MPTP-induced neurotoxicity in mice. J. Neurochem. 64: 936.
52. 52. Galpern, W.R., R.T. Matthews, M.F. Beal & O. Isacson. 1996. NGF attenuates 3-nitrotyrosine formation in a 3-NP model of Huntington's Disease. Neuroreport 7: 2639.
53. 53. Beal, M.F. Huntington's Disease, energy and excitotoxicity. 1994. Neurobiol. Aging 15: 275.
54. 54. Nicotera P., M. Ankarcrona, E. Bonfoco, S. Orrenius & S.A. Lipton. 1997. Neuronal necrosis and apoptosis: two distinct events induced by exposure to glutamate or oxidative stress. Adv. Neurol. 72: 95-101:95.
55. 55. Susin, S.A., H.K. Lorenzo, N. Zamzami, I. Marzo, B.E. Snow, G.M. Brothers, J. Mangion, E. Jacotot, P. Constantini, M. Loeffler, N. Larochette, D.R. Goodlett, R. Aebersold, D.P. Siderovski, J.M. Penninger & G. Kroemer. 1999. Molecular characterization of mitochondrial apoptosis-inducing factor (see comments). Nature 397: 441.
56. 56. Susin, S.A., N. Zamzami & G. Kroemer. 1998. Mitochondria as regulators of apoptosis: doubt no more. Biochim. Biophys. Acta 1366: 151.
57. 57. Tabrizi, S.J., L. Mangiarini, J. Workman, A. Mahal, G. Bates, J.M. Cooper & A.H. Schapira. 1998. Mitochondrial biochemical features of the R6/2 transgenic mouse model of Huntington's disease. Soc. Neurosci. 153.
58. 58. Melov, S., P. Coskum, M. Patel, R. Tuinstra, B. Cottrell, A.S. Jun, T.H. Zastawny, M. Dizdaroglu, S.I. Goodman, T.T. Huang, H. Miziorko, C.J. Epstein & D.C. Wallace. 1999. Mitochondrial disease in superoxide dismutase 2 mutant mice. Proc. Natl. Acad. Sci. USA 96: 846.
59. 59. Williams, M.D., R.H. Van, C.C. Conrad, T.T. Huang, C.J. Epstein & A. Richardson. 1998. Increased oxidative damage is correlated to altered mitochondrial function in heterozygous manganese superoxide dismutase knockout mice. J. Biol. Chem. 273: 28510.
60. 60. Gardner P.R., I. Raineri, L.B. Epstein & C.W. White. 1995. Superoxide radical and iron modulate aconitase activity in mammalian cells. J. Biol. Chem. 270: 13399.
61. 61. Schapira, A.H. 1999. Mitochondrial involvement in Parkinson's Disease, Huntington's Disease, hereditary spastic paraplegia and Friedreich's Ataxia (see comments). Biochim. Biophys. Acta 1410: 159.
62. 62. Rotig, A., P. De Lonlay, D. Chretien, F. Foury M. Koenig, D. Sidi, A. Munnich & P. Rustin. 1997. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich Ataxia. Nature Genet. 17: 215.
63. 63. Favit, A., F. Nicoletti, U. Scapagnini & P.L. Canonico. 1992. Ubiquinone protects cultured neurons against spontaneous and excitotoxins induced degeneration. J. Cereb. Blood Flow Metab. 12: 638.
64. 64. Beal, M.F., R. Henshaw, B.G. Jenkins, B.R. Rosen & J.B. Schulz. 1994. Coenzyme Q10 and nicotinamide block striatal lesions produced by the mitochondrial toxin malonate. Ann. Neurol 36: 882.
65. 65. Matthews, R.T., L. Yang, S. Browne, M. Baik & M.F. Beal. 1998. Coenzyme Q10 administration increases brain mitochondrial concentrations and exerts neuro-protective effects. Proc. Natl. Acad, Sci. USA 95: 8892-8897.
66. 66. Matthews, R.T., L. Yang, B.G. Jenkins, R.J. Ferrante, B.R. Rosen & R. Kaddurah-Daouk & M.F. Beal. 1998. Neuroprotective effects of creatine and cyclocreatine in animal models of Huntington's Disease. J. Neurosci. 18: 156-163.