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A search for abnormal RNA metabolism in spinocerebellar ataxia type 31

Research Project

Project/Area Number 24591252
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Neurology
Research InstitutionTokyo Medical and Dental University

Principal Investigator

ISHIKAWA Kinya  東京医科歯科大学, 医学部附属病院, 教授 (30313240)

Project Period (FY) 2012-04-01 – 2015-03-31
Project Status Completed (Fiscal Year 2014)
Budget Amount *help
¥5,460,000 (Direct Cost: ¥4,200,000、Indirect Cost: ¥1,260,000)
Fiscal Year 2014: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2013: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2012: ¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Keywords遺伝子 / 脳 / 神経疾患 / RNA / 脊髄小脳変性症 / ゲノム / マイクロアレー / 病態 / RNA
Outline of Final Research Achievements

We studied on human brain samples affected with spinocerebellar ataxia type 31 (SCA31). By expression analysis using microarray and RNA-seq, we found groups of genes which have meaningful alterations in their expression levels. Among those, we confirmed several genes that are down-regulated in SCA31 samples. Some of them were known to be involved in intracellular calcium homeostasis. We also found that SCA31 human Purkinje cells possess abnormal RNA structures called RNA foci which contain (UGGAA)n repeat, the transcript of (TGGAA)n repeat exclusively found in the SCA31 patients’ mutation locus. Such RNA foci were also found in cultured cells expressing SCA31 mutation constructs. These results suggest that the UGGAA repeat is involved in SCA31 pathogenesis.

Report

(4 results)
  • 2014 Annual Research Report   Final Research Report ( PDF )
  • 2013 Research-status Report
  • 2012 Research-status Report
  • Research Products

    (25 results)

All 2015 2014 2013 2012

All Journal Article (13 results) (of which Peer Reviewed: 13 results,  Open Access: 7 results,  Acknowledgement Compliant: 3 results) Presentation (4 results) (of which Invited: 1 results) Book (6 results) Patent(Industrial Property Rights) (2 results)

  • [Journal Article] A novel mutation in ELOVL4 leading to spinocerebellar ataxia with the hot cross bun sign but lacking erythrokeratodermia: a broadened spectrum of SCA34.2015

    • Author(s)
      Ozaki K, Doi H, Mitsui J, Sato N, Iikuni Y, Majima T, Yamane K, Irioka T, Ishiura H, Doi K, Morishita S, Higashi M, Sekiguchi T, Koyama K, Ueda N, Miura Y, Miyatake S, Matsumoto N, Yokota T, Tanaka F, Tsuji S, Mizusawa H, Ishikawa K.
    • Journal Title

      JAMA Neurology

      Volume: 6

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Variants associated with Gaucher disease in multiple system atrophy2015

    • Author(s)
      Mitsui J, Matsukawa T, Sasaki H, Yabe I, Nakahara Y, Momose Y, Takahashi Y, Hara K, Kakita A, Yamada M, Takahashi H, Onodera O, Nishizawa M, Watanabe H, Nakashima K, Ito H, Izumi Y, Kaji R, Kato T, Tsuji S, et al.
    • Journal Title

      Ann Clin Transl Neurol.

      Volume: 2 Issue: 4 Pages: 417

    • DOI

      10.1002/acn3.185

    • URL

      https://localhost/en/publications/c946bad2-a238-4d0e-a396-6d33b3922ab7

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Quantitative evaluation of human cerebellum-dependent motor learning through prism adaptation of hand-reaching movement.2015

    • Author(s)
      Hashimoto Y, Honda T, Matsumura K, Nakao M, Soga K, Katano K, Yokota T, Mizusawa H, Nagao S, Ishikawa K
    • Journal Title

      PLoS One.

      Volume: 10(3) Issue: 3 Pages: e0119376-e0119376

    • DOI

      10.1371/journal.pone.0119376

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Rare frequency of downbeat positioning nystagmus in spinocerebellar ataxia type 31.2015

    • Author(s)
      Yabe I, Matsushima M, Yoshida K, Ishikawa K, Shirai S, Takahashi I, Sasaki H.
    • Journal Title

      J Neurol Sci.

      Volume: Mar 15;350(1-2) Issue: 1-2 Pages: 90-92

    • DOI

      10.1016/j.jns.2014.12.042

    • NAID

      120005722547

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] CADASIL with a novel NOTCH3 mutation (Cys478Tyr).2015

    • Author(s)
      Ozaki K, Irioka T, Ishikawa K, Mizusawa H
    • Journal Title

      J Stroke Cerebrovasc Dis.

      Volume: Mar;24(3) Issue: 3 Pages: e61-e62

    • DOI

      10.1016/j.jstrokecerebrovasdis.2014.11.022

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion.2014

    • Author(s)
      Obayashi M, Stevanin G, Synofzik M, Monin ML, Duyckaerts C, Sato N, Streichenberger N, Vighetto A, Desestret V, Tesson C, Wichmann HE, Illig T, Huttenlocher J, Kita Y, Izumi Y, Mizusawa H, Schoels L, Klopstock T, Brice A, Ishikawa K, Duerr A
    • Journal Title

      J Neurol Neurosurg Psychiatry.

      Volume: Dec 4 Issue: 9 Pages: 986-995

    • DOI

      10.1136/jnnp-2014-309153

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Relocation of p25α/tubulin polymerization promoting protein from the nucleus to the perinuclear cytoplasm in the oligodendroglia of sporadic and COQ2 mutant multiple system atrophy.2014

    • Author(s)
      Ota K, Obayashi M, Ozaki K, Ichinose S, Kakita A, Tada M, Takahashi H, Ando N, Eishi Y, Mizusawa H, Ishikawa K.
    • Journal Title

      Acta Neuropathol Commun

      Volume: Sep 11;2 Issue: 1 Pages: 136-136

    • DOI

      10.1186/s40478-014-0136-4

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] The evaluation of polyglutamine repeats in autosomal dominant Parkinson's disease.2014

    • Author(s)
      Yamashita C, Tomiyama H, Funayama M, Inamizu S, Ando M, Li Y, Yoshino H, Araki T, Ichikawa T, Ehara Y, Ishikawa K, Mizusawa H, Hattori N.
    • Journal Title

      Neurobiol Aging.

      Volume: 35 Issue: 7 Pages: 1779.e17-1779.e21

    • DOI

      10.1016/j.neurobiolaging.2014.01.022

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Abnormal RNA structures (RNA foci) containing a penta-nucleotide repeat (UGGAA)n in the Purkinje cell nucleus is associated with spinocerebellar ataxia type 31 pathogenesis.2013

    • Author(s)
      Niimi Y, Takahashi M, Sugawara E, Umeda S, Obayashi M, Sato N, Ishiguro T, Higashi M, Eishi Y, Mizusawa H, Ishikawa K.
    • Journal Title

      Neuropathology

      Volume: 33(6) Issue: 6 Pages: 600-611

    • DOI

      10.1111/neup.12032

    • Related Report
      2013 Research-status Report 2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Cytoplasmic location of α1A voltage-gated calcium channel C-terminal fragment (Cav2.1-CTF) aggregate is sufficient to cause cell death.2013

    • Author(s)
      Takahashi M, Obayashi M, Ishiguro T, Sato N, Niimi Y, Ozaki K, Mogushi K, Mahmut Y, Tanaka H, Tsuruta F, Dolmetsch R, Yamada M, Takahashi H, Kato T, Mori O, Eishi Y, Mizusawa H, Ishikawa K.
    • Journal Title

      PLoS ONE

      Volume: 8(3) Issue: 3 Pages: e50121-e50121

    • DOI

      10.1371/journal.pone.0050121

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Development of Purkinje cell degeneration in a knockin mouse model reveals lysosomal involvement in the pathogenesis of SCA6.2012

    • Author(s)
      Unno, T., Wakamori, M., Koike, M., Uchiyama, Y., Ishikawa, K., Kubota, H., Yoshida, T., Sasakawa, H., Peters, C., Mizusawa, H. and Watase K
    • Journal Title

      Proc. Natl. Acad. Sci. USA

      Volume: 109(43) Issue: 43 Pages: 17693-17698

    • DOI

      10.1073/pnas.1212786109

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Reduced brain-derived neurotrophic factor (BDNF) mRNA expression and presence of BDNF-immunoreactive granules in the spinocerebellar ataxia type 6 (SCA6) cerebellum2012

    • 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
    • Journal Title

      Neuropathology

      Volume: (in press) Issue: 6 Pages: 593-603

    • DOI

      10.1111/j.1440-1789.2012.01302.x

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [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
    • Journal Title

      J Hum Genet

      Volume: 57(3) Issue: 3 Pages: 202-206

    • DOI

      10.1038/jhg.2012.5

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Presentation] Establishment of a novel system to apply cerebellar motor learning in clinics2013

    • Author(s)
      Kinya Ishikawa, Yuji Hashimoto, Takeru Honda, Soichi Nagao, and Hidehiro Mizusawa
    • Organizer
      Gordon Research Conference, Cerebellum
    • Place of Presentation
      New London, NH, USA
    • Related Report
      2013 Research-status Report
  • [Presentation] A BAC transgenic mouse model of spinocerebellar ataxia type 31 (SCA31) exhibits RNA foci in Purkinje cells.2013

    • Author(s)
      Sato N, Ishikawa K, Niimi Y, Mizusawa H.
    • Organizer
      The 65th Annual Meeting, The American Academy of Neurology.
    • Place of Presentation
      San Diego Convention Center
    • Related Report
      2012 Research-status Report
  • [Presentation] RNA mediated cell death is important in a cultured cell model of spinicerebellar ataxia type 31.2012

    • Author(s)
      Niimi Y, Ishikawa K, Sato N, Mizusawa H.
    • Organizer
      The 2nd International Conference of Neural Tissue and Cell Culture.
    • Place of Presentation
      東京医科歯科大学
    • Related Report
      2012 Research-status Report
  • [Presentation] A non-coding penta-nucleotide (UGGAA)n is essential for SCA31 pathogenesis.2012

    • Author(s)
      Ishikawa K.
    • Organizer
      The 7th International Conference on Unstable Microsatellite and Human Disease.
    • Place of Presentation
      Ste.Odile, France.
    • Related Report
      2012 Research-status Report
    • Invited
  • [Book] XV.小脳の障害と運動失調.1.小脳の解剖と機能.In: 橋本信夫監修、三國信啓、深谷 親編集,「脳神経外科プラックティス. 3.脳神経外科医のための脳機能と局在診断」文光堂. 278-282,2014. 87.2014

    • Author(s)
      石川欽也.
    • Publisher
      文光堂
    • Related Report
      2014 Annual Research Report
  • [Book] XV.小脳の障害と運動失調.2.小脳機能障害の分類.In: 橋本信夫監修、三國信啓、深谷 親編集,「脳神経外科プラックティス. 3.脳神経外科医のための脳機能と局在診断」2014

    • Author(s)
      石川欽也.
    • Publisher
      文光堂
    • Related Report
      2014 Annual Research Report
  • [Book] XV.小脳の障害と運動失調.3.小脳機能障害の評価.In: 橋本信夫監修、三國信啓、深谷 親編集,「脳神経外科プラックティス. 3.脳神経外科医のための脳機能と局在診断」2014

    • Author(s)
      石川欽也.
    • Publisher
      文光堂
    • Related Report
      2014 Annual Research Report
  • [Book] 「神経・精神疾患診療マニュアル」2013

    • Author(s)
      石川欽也,水澤英洋.
    • Publisher
      日本医師会雑誌.
    • Related Report
      2013 Research-status Report
  • [Book] 「小脳と運動失調. 小脳はなにをしているのか」アクチュアル 脳・神経疾患の臨床.2013

    • Author(s)
      石川欽也,水澤英洋.
    • Publisher
      中山書店
    • Related Report
      2013 Research-status Report
  • [Book] 脊髄小脳変性症の治療.薬物治療を中心に.In: 辻 省次 総編集、西澤正豊 専門編集,「小脳と運動失調. 小脳はなにをしているのか」アクチュアル 脳・神経疾患の臨床.2013

    • Author(s)
      石川欽也,水澤英洋.
    • Publisher
      中山書店
    • Related Report
      2012 Research-status Report
  • [Patent(Industrial Property Rights)] ALSの原因タンパク毒性を軽減する核酸2014

    • Inventor(s)
      石川欽也、水澤英洋、永井義隆、横田隆徳、石黒太郎、他2名
    • Industrial Property Rights Holder
      石川欽也、水澤英洋、永井義隆、横田隆徳、石黒太郎、他2名
    • Industrial Property Rights Type
      特許
    • Filing Date
      2014-12-02
    • Related Report
      2014 Annual Research Report
  • [Patent(Industrial Property Rights)] 脊髄小脳失調症31型(SCA31)治療剤2014

    • Inventor(s)
      石川欽也、水澤英洋、永井義隆、石黒太郎、佐藤 望、和田圭司
    • Industrial Property Rights Holder
      石川欽也、水澤英洋、永井義隆、石黒太郎、佐藤 望、和田圭司
    • Industrial Property Rights Type
      特許
    • Filing Date
      2014-12-02
    • Related Report
      2014 Annual Research Report

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Published: 2013-05-31   Modified: 2019-07-29  

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