Increased apoptosis of Huntington disease lymphoblasts associated with repeat length-dependent mitochondrial depolarization

Nature Medicine

Volumn 5, Issue 10, 1999, Pages 1194-1198

  Sawa, Akira ^a   Wiegand, Gordon W ^a,c   Cooper, Jillian ^a   Margolis, Russell L ^a   Sharp, Alan H ^a   Lawler Jr , Joseph F ^a   Greenamyre, J Timothy ^b   Snyder, Solomon H ^a   Ross, Christopher A ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c NATIONAL CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CASPASE 3;

ADULT; APOPTOSIS; ARTICLE; CELL DEATH; CELL GROWTH; CELL MEMBRANE DEPOLARIZATION; CELL STRUCTURE; CELL VIABILITY; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVATION; FEMALE; HUMAN; HUMAN CELL; HUNTINGTON CHOREA; LYMPHOBLAST; MALE; MITOCHONDRION; PRIORITY JOURNAL; STRESS;

ADOLESCENT; ADULT; APOPTOSIS; CASPASE 3; CASPASES; CYANIDES; ENZYME ACTIVATION; GLUTAMINE; HEMATOPOIETIC STEM CELLS; HUMANS; HUNTINGTON DISEASE; LYMPHOCYTES; MITOCHONDRIA; STAUROSPORINE; TRINUCLEOTIDE REPEATS;

EID: 0032851595     PISSN: 10788956     EISSN: None     Source Type: Journal    
DOI: 10.1038/13518     Document Type: Article

References (33)

1. MacDonald, M.E. & Gusella, J.F. Huntington's disease: translating a CAG repeat into a pathogenic mechanism. Curr. Opin. Neurobiol. 6, 638-43 (1996).
2. Li, S.H. et al. Huntington's disease gene (IT15) is widely expressed in human and rat tissues. Neuron 11, 985-993 (1993).
3. Klement, I.A. et al. Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell 95, 41-53 (1998).
4. Saudou, 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 95, 55-66 (1998).
5. Davies, S.W. et al. Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Cell 90, 537-548 (1997).
6. DiFiglia, M. et al. Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 277, 1990-1993 (1997).
7. Becher, M.W. et al. Intranuclear 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, 387-397 (1998).
8. Schapira, A. H. Mitochondrial function in Huntington's disease: clues for pathogenesis and prospects for treatment. Ann. Neurol. 41, 141-142 (1997).
9. Beal, M.F. et al. Neurochemical and histologic characterization of striatal excitotoxic lesions produced by the mitochondrial toxin 3-nitropropionic acid. J. Neurosci. 13, 4181-4192 (1993).
10. Gu, M. et al. Mitochondrial defect in Huntington's disease caudate nucleus. Ann. Neurol. 39, 385-389 (1996).
11. Koroshetz, W.J., Jenkins, B.G., Rosen, B.R. & Beal, M.F. Energy metabolism defects in Huntington's disease and effects of coenzyme Q10. Ann. Neurol. 41, 160-165 (1997).
12. Browne, S.E. et al. Oxidative damage and metabolic dysfunction in Huntington's disease: selective vulnerability of the basal ganglia. Ann. Neurol. 41, 646-653 (1997).
13. Tabrizi, S.J. et al. Biochemical abnormalities and excitotoxicity in Huntington's disease brain. Ann. Neurol. 45, 25-32 (1999).
14. Arenas, J. et al. Complex I defect in muscle from patients with Huntington's disease. Ann. Neurol. 43, 397-400 (1998).
15. Green, D.R. & Reed, J.C. Mitochondria and apoptosis. Science 281, 1309-1312 (1998).
16. Kroemer, G., Dallaporta, B. & Resche-Rigon, M. The mitochondrial death/life regulator in apoptosis and necrosis. Annu. Rev. Physiol. 60, 619-642 (1998).
17. Zamzami, N. et al. Reduction in mitochondrial potential constitutes an early irreversible step of programmed lymphocyte death in vivo. J. Exp. Med. 181, 1661-1672 (1995)
18. Ankarcrona, M. et al. Glutamate-induced neuronal death: a succession of necrosis or apoptosis depending on mitochondrial function. Neuron 15, 961-973 (1995).
19. Servadio, A. et al. Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type1 individuals. Nature Genet. 10, 94-98 (1995).
20. Marchetti, P. et al. Mitochondrial permeability transition is a central coordinating event of apoptosis. J. Exp. Med. 184, 1155-1160 (1996).
21. Nicolli, A., Basso, E., Petronilli, V., Wenger, R.M. & Bernardi, P. Interactions of cyclophilin with the mitochondrial inner membrane and regulation of the permeability transition pore, and cyclosporin A-sensitive channel. J. Biol. Chem. 271, 2185-2192 (1996).
22. Snyder, S.H. & Sabatini, D.M. Immunophilins and the nervous system. Nature Med. 1, 32-37 (1995).
23. Anholt, R.R., Pedersen, P.L., De Souza, E.B. & Snyder, S.H. The peripheral-type benzodiazepine receptor. Localization to the mitochondrial outer membrane. J. Biol. Chem. 261, 576-583 (1986).
24. Yang, J. et al. Prevention of apoptosis by Bcl-2: release of cytochrome c from mitochondria blocked. Science 275, 1129-1132 (1997).
25. Jacobsen, M.D., Weil, M. & Raff, M.C. Role of Ced-3/ICE-family proteases in staurosporine-induced programmed cell death. J. Cell Biol. 133, 1041-1051 (1996).
26. Kuida, K. et al. Reduced apoptosis and cytochrome c-mediated caspase activation in mice lacking caspase 9. Cell 7, 325-337 (1998).
27. Sanchez, I. et al. Caspase-8 is required for cell death induced by expanded polyglutamine repeats. Neuron 22, 623-633 (1999).
28. Ona, V.O. et al. Inhibition of caspase-1 slows disease progression in a mouse model of Huntignton's disease. Nature 399, 263-267 (1999).
29. Hackam, A.S., Singaraja, R., Zhang, T., Gan, L., & Hayden, M.R. In vitro evidence for both the nucleus and cytoplasm as subcellular sites of pathogenesis in Huntington's disease. Hum. Mol. Genet. 8, 25-33 (1999).
30. Gutekunst, C.A. et al. Nuclear and neuropil aggregates in Hunitington's disease: relationship to neuropathology. J. Neurosci. 19 2522-2534 (1999).
31. Penno, M.B., Pedrotti-Krueger, M. & Ray, T. Cryopreservation of whole blood and isolated lymphocytes for B-call immortalization. J. Tiss. Cult. Meth. 15, 43-48 (1993).
32. Sawa, A., Oyama, F., Cairns, N.J., Amano, N. & Matsushita, M. Aberrant expression of bcl-2 gene family in Down's syndrome brains. Brain Res. Mol. Brain Res 48, 53-59 (1997).
33. Sawa, A., Khan, A.A., Hester, L.D. & Snyder, S.H. Glyceraldehyde-3-phosphate dehydrogenase: nuclear translocation participates in neuronal and nonneuronal cell death. Proc. Natl. Acad. Sci. USA 94, 11669-11674 (1997).