Abundant expression and cytoplasmic aggregations of α1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6

Human Molecular Genetics

Volumn 8, Issue 7, 1999, Pages 1185-1193

  Ishikawa, Kinya ^a,b   Fujigasaki, Hiroto ^a,c   Saegusa, Hironao ^a   Ohwada, Kiyoshi ^a   Fujita, Tsuneo ^b   Iwamoto, Hiroyuki ^b,d   Komatsuzaki, Yasuko ^b,d   Toru, Shuta ^a   Toriyama, Hideyuki ^a   Watanabe, Masahiko ^b   Ohkoshi, Norio ^b   Shoji, Shin'ichi ^b   Kanazawa, Ichiro ^e   Tanabe, Tsutomu ^a   Mizusawa, Hidehiro ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^b UNIVERSITY OF TSUKUBA   (Japan)

^c TOKYO METROPOLITAN NEUROLOGICAL HOSPITAL   (Japan)

^d Hatsuishi Hospital   (Japan)

^e UNIVERSITY OF TOKYO   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM CHANNEL; GLUTAMINE; MEMBRANE PROTEIN; MESSENGER RNA;

ANIMAL CELL; APOPTOSIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CELL CULTURE; CELL NUCLEUS INCLUSION BODY; CEREBELLAR ATAXIA; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOPLASM; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; NERVE DEGENERATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN EXPRESSION; PURKINJE CELL; RAT;

ANIMALS; APOPTOSIS; BRAIN; CALCIUM CHANNELS; CELLS, CULTURED; CYTOPLASM; HUMANS; PC12 CELLS; PEPTIDES; PURKINJE CELLS; RATS; RNA, MESSENGER; SPINOCEREBELLAR DEGENERATIONS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 0032769095     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.7.1185     Document Type: Article

References (42)

1. Zhuchenko, O., Bailey, J., Bonnen, P., Ashizawa, T., Stockton, D.W., Amos, C., Dobyns, W.B., Subramony, S.H., Zoghbi, H.Y. and Lee, C.C. (1997) Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nature Genet., 15, 62-69.
2. Subramony, S.H., Fratkin, J.D., Manyam, B.V. and Currier, R.D. (1996) Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-1, Machado-Joseph disease, or dentato-rubro-pallido-luysian atrophy locus. Mov. Disord., 11, 174-180.
3. Ishikawa, K., Tanaka, H., Saito, M., Ohkoshi, N., Fujita, T., Yoshizawa, K., Ikeuchi, T., Watanabe, M., Hayashi, A., Takiyama, Y., Nishizawa, M., Nakano, I., Matsubayashi, K., Miwa, M., Shoji, S., Kanazawa, I., Tsuji, S. and Mizusawa, H. (1997) Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1. Am. J. Hum. Genet., 61, 336-346.
4. La Spada, A.R., Wilson, E.M., Lubahn, D.B., Harding, A.E. and Fischbeck, K.H. (1991) Androgen receptor mutations in X-linked spinal and bulbar muscular atrophy. Nature. 352, 77-79.
5. Huntington's Diseases Collaborative Research Group (1993) A novel gene containing a trinucleolide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell, 72, 971-983.
6. Orr, H.T., Chung, M., Banfi, S., Kwiatkowski, T.J., Servadio, A., Beaudet, A.L., McCall, A.E., Duvick, L.A., Ranum, L.P.W. and Zoghbi, H.Y. (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet., 4, 221-226.
7. Koide, R., Ikeuchi, T., Onodera, O., Tanaka, H., Igarashi, S., Endo, K., Takahashi, H., Kondo, R., Ishikawa, A., Hayashi, T., Saito, M., Tomoda, A., Miike, T., Naito, H., Ikuta, F. and Tsuji, S. (1994) Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet., 6, 9-13.
8. Nagafuchi, S., Yanagisawa, H., Sato, K., Shirayama, T., Ohsaki, E., Bundo, M., Takeda, T., Tadokoro, K., Kondo, I., Murayama, N., Tanaka, Y., Kikushima, H., Umino, K., Kurosawa, H., Furukawa, T., Nihei, K., Inoue, T., Sano, A., Komure, O., Takahashi, M., Yoshizawa, T., Kanazawa, I. and Yamada, M. (1994) Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nature Genet., 6, 14-18.
9. Kawaguchi, Y., Okamoto, T., Taniwaki, M., Aizawa, M., Inoue, M., Katayama, H., Nakamura, S., Nishimura, M., Akiguchi, I., Kimura, J., Narumiya, S. and Kakizuka, A. (1994) CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet., 8, 221-228.
10. Pulst, S.-M., Nechiporuk, A., Nechiporuk, T., Gispert, S., Chen, X.-N., Lopes-Cendes, I., Pearlman, S., Starkman, S., Orozco-Diaz, G., Lunkes, A., DeJong, P., Rouleau, G.A., Auburger, G., Korenberg, J.R., Figueroa, C. and Sahba, S. (1996) Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nature Genet., 14, 269-276.
11. Sanpei, K., Takano, H., Igarashi, S., Sato, T., Oyake, M., Sasaki, H., Wakisaka, A., Tashiro, K., Ishida, Y., Ikeuchi, T., Koide, R., Saito, M., Sato, A., Tanaka, T., Hanyu, S., Takiyama, Y., Nishizawa, M., Shimizu, N., Nomura, Y., Segawa, M., Iwabuchi, K., Eguchi, I., Tanaka, H., Takahashi, H. and Tsuji, S. (1996) Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nature Genet., 14, 277-284.
12. Imbert, G., Saudou, F., Yvert, G., Devys, D., Trottier, Y., Garnier, J.-M., Weber, C., Mandel, J.-L., Cancel, G., Abbas, N., Dürr, A., Didierjean, O., Stevanin, G., Agid, Y. and Brice, A. (1996) Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nature Genet., 14, 285-291.
13. David, G., Abbas, N., Stevanin, G., Dürr, A., Yvert, G., Cancel, G., Weber, C., Imbert, G., Saudou, F., Antoniou, E., Drabkin, H., Gemmil, R., Giunti, P., Benomar, A., Wood, N., Ruberg, M., Agid, Y., Mandel, J.-L. and Brice, A. (1997) Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nature Genet., 17, 65-70.
14. Yabe, I., Sasaki, H., Matsuura, T., Takada, A., Wakisaka, A., Suzuki, Y., Fukazawa, T., Hamada, T., Oda, T., Ohnishi, A. and Tashiro, K. (1998) SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia. J. Neurol. Sci., 156, 89-95.
15. Tellez-Nagel, I., Johnson, A.B. and Terry, R.D. (1974) Studies on brain biopsies of patients with Huntington's chorea. J. Neuropathol. Exp. Neurol., 33, 308-332.
16. 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. (1997) Formation of neuronal intranuclear inclusions underlies the neurological dysfunctions in mice transgenic for the HD mutation. Cell, 90, 537-548.
17. Paulson, H.L., Perez, M.K., Trottier, Y., Trojanowski, J.Q., Subramony, S.H., Das, S.S., Vig, P., Mandel, J.-L., Fischbeck, K.H. and Pittman, R.N. (1997) Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron, 19, 333-344.
18. DiFiglia, M., Sapp, E., Chase, K.O., Davies, S.W., Bates, G.P., Vonsattel, J.P. and Aronin, N. (1997) Aggregation of Huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science, 277, 1990-1993.
19. Skinner, P.J., Koshy, B.T., Cummings, C.J., Klement, I.A., Helin, K., Servadio, A., Zoghbi, H.Y. and Orr, H.T. (1997) Ataxin-1 with an expanded tract alters nuclear matrix-associated structures. Nature, 389, 971-974.
20. Igarashi, S., Koide, R., Shimohata, T., Yamada, M., Hayashi, Y., Takano, H., Date, H., Oyake, M., Sato, T., Sato, A., Egawa, S., Ikeuchi, T., Tanaka, H., Nakano, R., Tanaka, K., Hozumi, I., Inuzuka, T., Takahashi, H. and Tsuji, S. (1998) Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch. Nature Genet., 18, 111-117.
21. Li, M., Miwa, S., Kobayashi, Y., Merry, D.E., Yamamoto, M., Tanaka, F., Doyu, M., Hashizume, Y., Fischbeck, K.H. and Sobue, G. (1998) Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy. Ann. Neurol., 44, 249-254.
22. Holmberg, M., Duyckaerts, C., Dürr, A., Cancel, G., Gourfinkel-An, I., Damier, P., Faucheux, B., Trottier, Y., Hirsch, E.C., Agid, Y. and Brice, A. (1998) Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions. Hum. Mol. Genet., 7, 913-918.
23. Cummings, C.J., Mancini, M.A., Antalffy, B., DeFranco, D.B., Orr, H.T. and Zoghbi, H.Y. (1998) Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1. Nature Genet., 19, 148-154.
24. Sapp, E., Schwarz, C., Chase, K., Bhide, P.G., Young, A.B., Penney, J., Vonsattel, J.P., Aronin, N. and DiFiglia, M. (1997) Huntingtin localization in brains of normal and Huntington's disease patients. Ann. Neurol., 42, 604-612.
25. Mori, Y., Friedrich, T., Kim, M.-S., Mikami, A., Nakai, J., Ruth, P., Broose, E., Hofman, F., Flockerzi, V., Furuichi, T., Mikoshiba, K., Imoto, K., Tanabe, T. and Numa, S. (1991) Primary structure and functional expression from complementary DN A of a brain calcium channel. Nature, 350, 398-402.
26. Hillman, D., Chen, S., Aung, T.T., Cherksey, B., Sugimori, M. and Llinás, R.R. (1991) Localization of P-type calcium channels in the central nervous system. Proc. Natl Acad. Sci. USA, 88, 7076-7080.
27. Westenbroek, R.E., Sakurai, T., Elliot, E.M., Hell, J.W., Starr, T.V.B., Snutch, T.P. and Catterall, W.A. (1995) Immunochemical identification and subcellular distribution of the alpha 1A subunit of brain calcium channels. J. Neurosci., 15, 6403-6418.
28. 2+ channel gene CACNL1A4. Cell, 87, 543-552.
29. Volsen, S.G., Day, N.C., McCormack, A.L., Smith, W., Craig, P.J., Beattie, R., Ince, P.G., Shaw, P.J., Ellis, S.B., Gillespie, A., Harpold, M.M. and Lodge, D. (1995) The expression of neuronal voltage-dependent calcium channels in human cerebellum. Brain Res. Mol. Brain Res., 34, 271-282.
30. Becher, M.W., Kotzuk, J.A., Sharp, A.H., Davies, S.W., Bates, G.P., Price, D.L. and Ross, C.A. (1998) 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.
31. Lorenzon, N.M., Lutz, C.M., Frankel, W.N. and Beam, K.G. (1998) Altered calcium channel currents in Purkinje cells of the neurological mutant mouse leaner. J. Neurosci., 18, 4482-4489.
32. Hayashi, Y., Kakita, A., Yamada, M., Egawa, S., Oyanagi, S., Naito, H., Tsuji, S. and Takahashi, H. (1998) Hereditary dentatorubral-pallidoluysian atrophy: ubiquitinated filamentous inclusions in the cerebellar dentate nucleus neurons. Acta Neuropathol., 95, 479-482.
33. Matilla, A., Koshy, B.T., Cummings, C.J., Isobe, T., Orr, H.T. and Zoghbi, H.Y. (1997) The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1. Nature, 389, 974-978.
34. Martindale, D., Hackam, A., Wieczorek, A., Ellerby, L., Wellington, C., McCutcheon, K., Singaraja, R., Kazemi-Esfarjani, P., Devon, R., Kim, S.U., Bredesen, D.E., Tufaro, F. and Hayden, M.R. (1998) Length of huntingtin and its polyglutamine tract influences localization and frequency of intracellular aggregates. Nature Genet., 18, 150-154.
35. Klement, I.A., Skinner, P.J., Kaytor, M.D., Yi, H., Hersch, S.M., Clark, H.B., Zoghbi, H.Y. and Orr, H.T. (1998) Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell, 95, 41-53.
36. Saudou, F., Finkbeiner, S., Devys, D. and Greenberg, ME. (1998) Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions. Cell, 95, 55-66.
37. Brice, N.L., Berrow, N.S., Campbell, V., Page, K.M., Brickley, K., Tedder, I. and Dolphin, A.C. (1997) Importance of the different beta subunits in the membrane expression of the alpha1A and alpha2 calcium channel subunits: studies using a depolarization-sensitive alpha1A antibody. Eur. J. Neurosci., 9, 749-759.
38. la) cerebellum. Mol. Brain Res., 59, 93-99.
39. Fletcher, C.F., Lutz, C.M., O'Sullivan, N.T., Shaughnessy, J.D. Jr, Hawkes, R., Frankel, W.N., Copeland, N.G. and Jenkins, N.A. (1996) Absence epilepsy in tottering mutant mice is associated with calcium channel defects. Cell, 87, 607-617.
40. Ishikawa, K. (1999) A clinical, neuropathological and molecular study in two families with spinocerebellar ataxia type 6 (SCA6). J. Neurol. Neurosurg. Psychiatry, in press.
41. Ishikawa, K., Mizusawa, H., Fujita, T., Ohkoshi, N., Doi, M., Komatsuzaki, Y., Iwamoto, H., Ogata, T. and Shoji, S. (1995) Calbindin-D28k immunoreactivity in the cerebellum of spinocerebellar degeneration. J. Neurol. Sci., 129, 179-185.
42. Mizusawa, H., Yoshizawa, K., Kanazawa, I., Mori, Y., Ogata, T. and Nakanishi, T. (1987) A family of cortical cerebellar atrophy (Holmes): a clinical and neuropathological study. Neurol. Med., 26, 257-264.