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Basic and clinical research to esatblsh biological markers for Rett syndrome

Research Project

Project/Area Number 18K07893
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Review Section Basic Section 52050:Embryonic medicine and pediatrics-related
Research InstitutionKurume University

Principal Investigator

Matsuishi Toyojiro  久留米大学, 付置研究所, 客員教授 (60157237)

Co-Investigator(Kenkyū-buntansha) 児島 将康  久留米大学, 付置研究所, 教授 (20202062)
高橋 知之  久留米大学, 医学部, 准教授 (20332687)
御船 弘治  久留米大学, 医学部, 客員准教授 (70174117)
山下 裕史朗  久留米大学, 医学部, 教授 (90211630)
Project Period (FY) 2018-04-01 – 2024-03-31
Project Status Completed (Fiscal Year 2023)
Budget Amount *help
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2020: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2019: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2018: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Keywordsレット症候群 / MECP2遺伝子 / 全エキソーム解析 / バイオマーカー / ジストニア / 自律神経症状 / モデル動物 / ghrelin / 自律神経 / 神経伝達物質 / 睡眠 / ホルター心電計 / グレリン / iPS細胞 / 振戦 / 突然死 / 不整脈 / 肺炎 / Rett症候群
Outline of Final Research Achievements

The pathophysiology of Rett syndrome (RTT) is unknown yet. We used mouse model, ES cell,iPS cell for clerify the pathophysiology.In our pilot study, we firstly reported the ghrelin administration improved the clinical symptoms of dystonia. We performed the non-invasive evaluation of dystonia scale, physiological study and neurotransmitte, neuromodukator by using the saliva sample.

Academic Significance and Societal Importance of the Research Achievements

RTTは希少難病に指定されている疾患で、難治てんかん、自閉スペクトラム症、最重度知的障害をきたす発達障害である。発達期脳障害の病態の解明は、脳を守る、育む上でも重要である。患者会も日本で30年以上前から設立されて活発な活動を行っているが、症状の退行をきたすために養育者、家族の不安、悩みは大きい。病態を解明し、バイオマーカーを発見することで、早期診断・介入に繋がり、家族の不安が和らげられる。また、我々は、日本で発見されたGhrelinを用いてパイロット研究を行い、難治で患者QOLに関与するジストニアの改善を見つけて報告した。今後、多施設研究で新規治療法開発に繋がる。

Report

(7 results)
  • 2023 Annual Research Report   Final Research Report ( PDF )
  • 2022 Research-status Report
  • 2021 Research-status Report
  • 2020 Research-status Report
  • 2019 Research-status Report
  • 2018 Research-status Report
  • Research Products

    (27 results)

All 2023 2022 2021 2019 2018

All Journal Article (16 results) (of which Int'l Joint Research: 2 results,  Peer Reviewed: 16 results,  Open Access: 10 results) Presentation (8 results) (of which Int'l Joint Research: 2 results,  Invited: 1 results) Book (1 results) Patent(Industrial Property Rights) (2 results) (of which Overseas: 1 results)

  • [Journal Article] Arterial spin labeling image findings in the acute phase in paediatric patients with acute encephalopathy with biphasic seizures and late reduced diffusion2023

    • Author(s)
      Kawano Go、Tokutomi Kentaro、Kikuchi Yoshitomo、Sakata Kensuke、Sakaguchi Hirotaka、Yokochi Takaoki、Akita Yukihiro、Matsuishi Toyojiro
    • Journal Title

      Frontiers in Neuroscience

      Volume: 17

    • DOI

      10.3389/fnins.2023.1252410

    • Related Report
      2023 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Molecular diagnosis of 405 individuals with autism spectrum disorder2023

    • Author(s)
      2.Miyake N, Tsurusaki Y, Fukai R, ---Matsuishi T, --Matsumoto N
    • Journal Title

      Eur J Hum Genet

      Volume: 27 Pages: 1-8

    • Related Report
      2023 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Burden of seizures and comorbidities in patients with epilepsy: a survey based on the teriary hospital-based epilepsy syndrome Registry in Japan2022

    • Author(s)
      Inoue Y, Hamano S, Hayashi M, --Matsuishi T---, Kuki I
    • Journal Title

      Epileptic Disord

      Volume: 24 Pages: 82-94

    • Related Report
      2022 Research-status Report
    • Peer Reviewed
  • [Journal Article] Perampanel markedly improved clinical seizures in a patient with a Rett-like phenotype and 960-kb deletion on chromosome 9q34.11 including the STXBP12022

    • Author(s)
      4.Yoshida S., Amamoto M., Takahashi T., Tomita I., Yuge K., Hara M., Iwama K., Matsumoto N., Matsuishi T.
    • Journal Title

      Clin Case Rep

      Volume: in press Issue: 5 Pages: 1-7

    • DOI

      10.1002/ccr3.5811

    • Related Report
      2022 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Early diagnosis of MECP2 duplication syndrome: Insights from a nationwide survey in Japan.2021

    • Author(s)
      Takeguchi R, Takahashi S, Akaba Y, Tanaka R, Nabatame S, Kurosawa K, Matsuishi T, Itoh M.
    • Journal Title

      J Neurol Sci

      Volume: 422 Pages: 117321-117321

    • DOI

      10.1016/j.jns.2021.117321

    • Related Report
      2021 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Current medico-psycho-social conditions of patients with West syndrome in Japan2021

    • Author(s)
      Yoshitomi S, Hamano S, Hayashi M, ----Matsuishi T, --Ioue Y
    • Journal Title

      Epileptic Disor

      Volume: 23 Pages: 579-588

    • Related Report
      2021 Research-status Report
    • Peer Reviewed
  • [Journal Article] Case Report: Rituximab Improved Epileptic Spasms and EEG Abnormalities in an Infant with West Syndrome and Anti-NMDAR Encephalitis Associated With APECED2021

    • Author(s)
      Kawano G, Yokochi T, Nishikomori R, Watanabe Y, Ohbu K, Takahashi Y, Shintaku H, Matsuishi T
    • Journal Title

      Front Neurol

      Volume: 12

    • DOI

      10.3389/fneur.2021.679164

    • Related Report
      2021 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Truncal instability and titubation in patients with acute encephalopathy with reduced subcortical diffusion2021

    • Author(s)
      Kawano G, Yae Y, Sakata K, Yokochi T , Imagi T , Ohbu1 K , Matsuishi T
    • Journal Title

      Front. Neurol

      Volume: 12 Pages: 740655-740655

    • DOI

      10.3389/fneur.2021.740655

    • Related Report
      2021 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing2019

    • Author(s)
      Iwama Kazuhiro、Mizuguchi Takeshi、Miyatake Satoko、Matsumoto Naomichi、et al
    • Journal Title

      Journal of Medical Genetics

      Volume: - Issue: 6 Pages: 396-407

    • DOI

      10.1136/jmedgenet-2018-105775

    • Related Report
      2019 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Development of the Daily Time Management Scale for Use by Working People with Type 2 Diabetes2019

    • Author(s)
      Nakao T, Takeishi C, Nunoi K, Matsuishi T, Okamura H, Sato Y, Uchizono Y, Mizuno M, Yokobori Y, Shimizu Y
    • Journal Title

      Jpn J Nurs Sci

      Volume: e12307 Issue: 2 Pages: 1-11

    • DOI

      10.1111/jjns.12307

    • NAID

      210000174717

    • Related Report
      2019 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Brain stem infarction in a 6-year-old boy with Down syndrome2019

    • Author(s)
      Imgi T, Matsushita T, Matsushita M, Yae Y, Yokochi T, Kawano G, Akita Y, OHbu K, Matsuishi T
    • Journal Title

      Brain Dev

      Volume: 41 Pages: 555-558

    • Related Report
      2019 Research-status Report
    • Peer Reviewed
  • [Journal Article] Fulminant acute disseminated encephalomyelitis in chidren2019

    • Author(s)
      Yae Y, Kawano G, Yokochi T, Imagi T, Akita Y, Ohbu K, Matsuishi T
    • Journal Title

      Brain Dev

      Volume: 41 Pages: 373-377

    • Related Report
      2019 Research-status Report
    • Peer Reviewed
  • [Journal Article] De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies2018

    • Author(s)
      Saikusa Tomoko、Hara Munetsugu、Iwama Kazuhiro、Yuge Kotaro、Ohba Chihiro、Okada Jun-ichiro、Hisano Tadashi、Yamashita Yushiro、Okamoto Nobuhiko、Saitsu Hirotomo、Matsumoto Naomichi、Matsuishi Toyojiro
    • Journal Title

      Brain and Development

      Volume: 40 Issue: 5 Pages: 406-409

    • DOI

      10.1016/j.braindev.2017.12.013

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl2018

    • Author(s)
      Yuge K, Iwama K, Yonee C,--Matsuishi T
    • Journal Title

      Brain Dev

      Volume: 40 Issue: 6 Pages: 493-497

    • DOI

      10.1016/j.braindev.2018.02.002

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder2018

    • Author(s)
      Takata A, Miyake N, Tsurusaki Y, Fukai R, Miyatake S, Koshimizu E, Kushima I, Okada T, ...Matsumoto N.
    • Journal Title

      Cell Reports

      Volume: 22(3) Issue: 3 Pages: 734-747

    • DOI

      10.1016/j.celrep.2017.12.074

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] レット症候群の病態とMeCP2の多様な役割.総説―医学・医療の最前線シリーズ2018

    • Author(s)
      高橋知之,弓削康太郎,松石豊次郎,山下裕史朗
    • Journal Title

      久留米医学会雑誌

      Volume: 81 Pages: 1-8

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Presentation] レット症候群の自然経過-地方都市の大学病院にてー2022

    • Author(s)
      原 宗嗣、弓削康太郎、山下裕史朗、松石豊次郎
    • Organizer
      第64回日本小児神経学会学術集会
    • Related Report
      2022 Research-status Report
  • [Presentation] レット症候群モデルマウスにおける睡眠・覚醒病態とオレキシンシグナル伝達の異常2022

    • Author(s)
      弓削康太郎、高橋知之、河原幸江、坂井勇介、佐藤貴弘、児島将康、西昭徳、松石豊次郎、山下裕史朗
    • Organizer
      第49回日本脳科学学会
    • Related Report
      2022 Research-status Report
  • [Presentation] MeCP2欠損マウスによるレット症候群の睡眠障害に関する研究2021

    • Author(s)
      弓削康太郎、高橋知之、松石豊次郎、山下裕史朗
    • Organizer
      第63回日本小児神経学会学術集会
    • Related Report
      2021 Research-status Report
    • Int'l Joint Research
  • [Presentation] レット症候のジストニアにグレリンは有効か?-多施設共同研究を目指した評価指標の検討と問題点-2019

    • Author(s)
      松石豊次郎、弓削康太郎、織本健司、高橋知之、池田 恭
    • Organizer
      第34回日本大脳基底核研究会
    • Related Report
      2019 Research-status Report
  • [Presentation] 言語保持型レット症候群患者の全エクソンシークエンスのトリオ解析2019

    • Author(s)
      織本健司、松石豊次郎、弓削康太郎、堀家慎一
    • Organizer
      第42回日本分子生物学会
    • Related Report
      2019 Research-status Report
  • [Presentation] Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing2019

    • Author(s)
      Iwama K, Mizuguchi T, Takeshita E, --Matsuishi T(14番目), Goto Y, Mataumoto N
    • Organizer
      第64回日本人類遺伝学会
    • Related Report
      2019 Research-status Report
  • [Presentation] Ghrelin improves dystonia/behavioral dysfunctions with an atypical form of Rett syndrome patient2018

    • Author(s)
      Orimoto K, Matsuishi T, Yuge K, Horike S, Meguro M
    • Organizer
      59th Annual Meeting of the Japanese Society of Neurology
    • Related Report
      2018 Research-status Report
    • Int'l Joint Research
  • [Presentation] グレリンはレット症候群の症状を改善する -新規治療法開発の未来への扉-2018

    • Author(s)
      松石豊次郎
    • Organizer
      Bio JAPAN
    • Related Report
      2018 Research-status Report
    • Invited
  • [Book] レット症候群。てんかん症候群 診断と治療の手引き2023

    • Author(s)
      松石豊次郎、河野 剛
    • Publisher
      メディカルビュー社
    • ISBN
      9784779227400
    • Related Report
      2023 Annual Research Report
  • [Patent(Industrial Property Rights)] グレリンを有効成分として含有するレット症候群(RTT)の予防・治療剤2018

    • Inventor(s)
      松石豊次郎、弓削康太郎、児島将康、原宗嗣、山下裕史朗
    • Industrial Property Rights Holder
      久留米大学
    • Industrial Property Rights Type
      特許
    • Industrial Property Number
      2017-545099
    • Filing Date
      2018
    • Related Report
      2018 Research-status Report
  • [Patent(Industrial Property Rights)] Prophylactic and therapeutic agent for Rett syndrome (RTT) comprising ghrelin as active ingredient2018

    • Inventor(s)
      Toyojiro Matsuishi et al
    • Industrial Property Rights Holder
      久留米大学
    • Industrial Property Rights Type
      特許
    • Filing Date
      2018
    • Related Report
      2018 Research-status Report
    • Overseas

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Published: 2018-04-23   Modified: 2025-01-30  

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