2011 Fiscal Year Final Research Report
A basic research for identifying fundamental therapy for SCA6 and SCA31
| Project/Area Number |
21249054
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| Research Category |
Grant-in-Aid for Scientific Research (A)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Neurology
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| Research Institution | Tokyo Medical and Dental University |
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Principal Investigator |
MIZUSAWA Hidehiro 東京医科歯科大学, 大学院・医歯学総合研究科, 教授 (30144091)
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| Co-Investigator(Kenkyū-buntansha) |
ISHIKAWA Kinya (30313240)
WATASE Kei (30376800)
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| Project Period (FY) |
2009 – 2011
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| Keywords | 遺伝子 / 蛋白質 / 応用動物 / 内科 / 脳神経疾患 |
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| Research Abstract |
We performed basic research for three years(FY2009-2011) and achieved three key developments toward discovering drugs that that may be able to stop primary degenerative processes in spinocerebellar ataxia type 6(SCA6) and 31(SCA31). First, we found that the carboxyl-terminal fragment of the 1A-calcium channel is toxic when expressed in the cytoplasm. Second, we succeeded in developing a cellular model that could efficiently monitor the splicing patterns of the 1A-calcium channel gene. This model could be useful for future drug screens. Third, we found a penta-nucleotide sequence that is necessary for the development of SCA31. These achievements are crucial for the future establishment of treatments of SCA6 and SCA31.
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Research Products
(24 results)
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[Journal Article] Reduced brain-derived neurotrophic factor(BDNF) mRNA expression and presence of BDNF-immunoreactive granules in the spinocerebellar ataxia type 6(SCA6) cerebellum.2012
Author(s)
Takahashi M, Ishikawa K, Sato N, Obayashi M, Niimi Y, Ishiguro T, Yamada M, Toyoshima Y, Takahashi H, Kato T, Takao M, Murayama M, Mori O, Eishi Y, Mizusawa H
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Journal Title
Neuropathology
Volume: (in press)
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[Journal Article] Prevalence of inositol 1, 4, 5-triphosphate receptor type 1 gene(ITPR1) deletion, the mutation for spinocerebellar ataxia type 15(SCA15), in Japan screened by gene dosage2012
Author(s)
Obayashi M, Ishikawa K, Izumi Y, Takahashi M, Niimi Y, Sato N, Onodera O, Kaji R, Nishizawa M, Mizusawa H
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Journal Title
J Hum Genet
Volume: 57(3)
Pages: 202-206
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[Journal Article] Pentanucleotide repeats at the spinocerebellar ataxia type 32(SCA31) locus in Caucasians2011
Author(s)
Ishikawa K, Durr A, Klopstock T, M ller S, De Toffol B, Vighetto A, Marelli C, Wichmann HE, Illig T, Niimi Y, Sato N, Amino T, Stevanin G, Brice A, Mizusawa H
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Journal Title
Neurology
Volume: 77(20)
Pages: 1853-1855
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[Journal Article] Suppression of the novel ER proteinMaxer by mutant ataxin-1 in Bergmanglia contributes tonon-cell-autonomous toxicity2010
Author(s)
Shiwaku, H., Yoshimura, N., Tamura, T., Sone, M., Ogishima, S., Watase, K., Tagawa, K. and Okazawa H.
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Journal Title
EMBO J
Volume: 29(14)
Pages: 2446-2460
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[Journal Article] The carboxy-terminal fragment of alpha1A calcium channel preferentially aggregates in the cytoplasm of human spinocerebellar ataxia type 6 Purkinje cells2010
Author(s)
Ishiguro T, Ishikawa K, Takahashi M, Obayashi M, Amino T, Sato N, Sakamoto M, Fujigasaki H, Tsuruta F, Dolmetsch R, Arai T, Sasaki H, Nagashima K, Kato T, Yamada M, Takahashi H, Hashizume Y, Mizusawa H
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Journal Title
Acta Neuropathol
Volume: 119(4)
Pages: 447-464
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[Journal Article] Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing(TGGAA) n2009
Author(s)
Sato N, Amino T, Kobayashi K, Asakawa S, Ishiguro T, Tsunemi T, Takahashi M, Matsuura T, Flanigan KM, Iwasaki S, Ishino F, Saito Y, Murayama S, Yoshida M, Hashizume Y, Takahashi Y, Tsuji S, Shimizu N, Toda T, Ishikawa K, Mizusawa H
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Journal Title
Am J Hum Genet
Volume: 85(5)
Pages: 544-557
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