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Complihensive analysis for causative genes in unknown monogenic diabetes

Research Project

Project/Area Number 17K07258
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Medical genome science
Research InstitutionTokyo Women's Medical University

Principal Investigator

Iwasaki Naoko  東京女子医科大学, 医学部, 教授 (70203370)

Project Period (FY) 2017-04-01 – 2020-03-31
Project Status Completed (Fiscal Year 2019)
Budget Amount *help
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2019: ¥260,000 (Direct Cost: ¥200,000、Indirect Cost: ¥60,000)
Fiscal Year 2018: ¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000)
Fiscal Year 2017: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
KeywordsMODY / 若年発症糖尿病 / 単一遺伝子糖尿病 / 次世代シーケンサー / 個別化医療 / monogenic diabetes / 糖尿病 / 単一遺伝子異常 / 網羅的解析 / targeted sequencing / ゲノム医療 / 原因遺伝子 / 単一遺伝子疾患 / ゲノム / 単一遺伝子病
Outline of Final Research Achievements

MODY is a subtype of diabetes mellitus characterized by early age of onset, autosomal dominant mode of inheritance and lack of obesity. MODY is caused by a single gene disorder and a good model for personalized medicine, because of the better autocomes on patients' QOL and overall medical costs. The number of MODY in JAPAN is estimated at least 12,000.
To promote such personalized medicine for MODY in JAPAN, we aimed to clarify the causative gene of Japanese MODY. 61 MODY were comprehensively analyzed with a next-generation sequencer (NGS). Mutations were identified in 16 (26.2%) and possibly pathogenic variants were detected in 8 (13.1%), for a total of 24 (39.3%). Including the SLC308A, INSR, and WFS1 genes, polymorphisms with amino acid substitutions were detected in 26 (42.6%), thus, in total we identified any substitutions in 50 among 61 MODY (81.9%), indicating that NGS is a powerful tool for analyzing MODY causative genes as well as novel susceptible genes.

Academic Significance and Societal Importance of the Research Achievements

61名の規模のMODYの原因遺伝子を明らかにするための、次世代シーケンサーを用いた網羅的検討は知りうる限りではわが国においては我々が最初である。これまで実施してきたサンガー解析、MLPA解析、micro array解析の結果をすべて統合し、MODY約300例の解析結果をまとめて論文化する準備を進めている。
この報告は我が国独自の成績として海外で参照されることが期待され、人種によるMODYの頻度差などの検討に資すると考えられる。さらに我が国において大きく遅れている糖尿病の個別化医療の推進は患者QOLの向上を通じて社会貢献につながるほか、遺伝子解析結果は糖尿病新規治療薬のシーズとして期待される。

Report

(4 results)
  • 2019 Annual Research Report   Final Research Report ( PDF )
  • 2018 Research-status Report
  • 2017 Research-status Report
  • Research Products

    (23 results)

All 2020 2019 2018 2017

All Journal Article (6 results) (of which Int'l Joint Research: 2 results,  Peer Reviewed: 3 results,  Open Access: 4 results) Presentation (15 results) (of which Int'l Joint Research: 5 results,  Invited: 1 results) Book (2 results)

  • [Journal Article] Mitochondrial Diabetes2019

    • Author(s)
      岩﨑直子, 尾形真規子, 大澤真里
    • Journal Title

      Journal of the Japan Diabetes Society

      Volume: 62 Issue: 8 Pages: 457-460

    • DOI

      10.11213/tonyobyo.62.457

    • NAID

      130007696933

    • ISSN
      0021-437X, 1881-588X
    • Year and Date
      2019-08-30
    • Related Report
      2019 Annual Research Report
    • Open Access
  • [Journal Article] Low resting energy expenditure in postmenopausal Japanese women with type 2 diabetes mellitus2019

    • Author(s)
      Ide Risa, Ogata Makiko, Iwasaki Naoko, Babazono Tetsuya
    • Journal Title

      Diabetology International

      Volume: 10 Issue: 4 Pages: 268-278

    • DOI

      10.1007/s13340-019-00391-z

    • NAID

      40022039939

    • Related Report
      2019 Annual Research Report 2018 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Expression of mutant mRNA and protein in pancreatic cells derived from MODY3- iPS cells2019

    • Author(s)
      Shigeharu G. Yabe1, Junko Nishida, Satsuki Fukuda, Fujie Takeda, Kiyoko Nasiro, Kazuki Yasuda, Naoko Iwasaki, Hitoshi Okochi
    • Journal Title

      PLOS ONE

      Volume: accepted

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Diagnosis and Genetic Counseling for Mitochondrial Disease at the Institute of Medical Genetics, Tokyo Women's Medical University2018

    • Author(s)
      Mari MATSUO, Naoko IWASAKI, Kayoko SAITO
    • Journal Title

      Tokyo Women's Medical University Journal

      Volume: 2 Issue: 0 Pages: 6-13

    • DOI

      10.24488/twmuj.2018003

    • NAID

      130007537173

    • ISSN
      2432-6186
    • Year and Date
      2018-12-20
    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] 糖尿病遺伝子診断の現状と展望2017

    • Author(s)
      岩﨑直子
    • Journal Title

      月刊糖尿病

      Volume: 9 Pages: 102-109

    • Related Report
      2017 Research-status Report
  • [Journal Article] 糖尿病は遺伝するのか:2型糖尿病の遺伝子検査で何がわかるか2017

    • Author(s)
      岩﨑直子
    • Journal Title

      糖尿病診療マスター

      Volume: 15 Pages: 572-577

    • Related Report
      2017 Research-status Report
  • [Presentation] GLP1-RAが著効したミトコンドリア糖尿病の一例2020

    • Author(s)
      大澤真里、長谷美智代、藤田悦子、松村美由起、上塚芳郎、岩﨑直子
    • Organizer
      第57回日本糖尿病学会地方会
    • Related Report
      2019 Annual Research Report
  • [Presentation] Progeroid syndrome with focal segmental glomeruloscrelosis due to ZMPSTE24 mutations2019

    • Author(s)
      Mari Matsuo, Naoko Iwasaki, Toru Kusakabe, Kayoko Sato, Gen Nishimura, Kayoko Saito
    • Organizer
      European Human Genetics Conference
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research
  • [Presentation] 次世代シーケンサーを用いたMODY14 遺伝子の網羅的解析2019

    • Author(s)
      岩﨑直子, 赤川浩之, 尾形真規子, 滝澤美保, 富岡光枝, 馬場園哲也, 山本俊至
    • Organizer
      第62回日本糖尿病学会
    • Related Report
      2019 Annual Research Report
  • [Presentation] GLP-1受動体作動薬が糖尿病および肝機能障害に有効であった筋強直ジストロフィーの同胞例2019

    • Author(s)
      岩﨑直子, 大友真理, 浦野真理, 佐藤裕子, 坂井晶子, 山本俊至, 齋藤加代子
    • Organizer
      第43回日本遺伝カウンセリング学会学術集会
    • Related Report
      2019 Annual Research Report
  • [Presentation] Consensus guidlineに基づいた糖尿病個別化医療のアウトカム2019

    • Author(s)
      岩﨑直子, 大澤真里, 長谷美智代, 松尾真理, 山本俊至, 馬場園哲也, 齋藤加代子
    • Organizer
      日本人類遺伝学会第64回大会
    • Related Report
      2019 Annual Research Report
  • [Presentation] Screening for mutations in 14 kinds of MODY genes in patients with MODY in Japanese by next generation sequencing2018

    • Author(s)
      Naoko Iwasaki, Toshiyuki Yamamoto, Hiroyuki Akagawa, makiko Ogata, Kayoko Saito
    • Organizer
      The American Society of Human Genetics 2018 Annual Meeting
    • Related Report
      2018 Research-status Report
    • Int'l Joint Research
  • [Presentation] Screening for mutations in 14 kinds of MODY genes in patients with MODY in Japanese by next generation sequencing2018

    • Author(s)
      Naoko Iwasaki, Toshiyuki Yamamoto, Hiroyuki Akagawa, makiko Ogata, Kayoko Saito
    • Organizer
      Annual meeting of Japan Sosiety of Human Genetics 63rd Congress
    • Related Report
      2018 Research-status Report
    • Int'l Joint Research
  • [Presentation] 糖尿病診療における個別化医療の実践2018

    • Author(s)
      岩﨑直子, 尾形真規子,土屋美保, 大澤真里, 富岡光枝,馬場園哲也
    • Organizer
      第61回日本糖尿病学会
    • Related Report
      2018 Research-status Report
  • [Presentation] ビタミンDが培養膵β細胞ミトコンドリア電子伝達系のグルコース反 応性に及ぼす影響2018

    • Author(s)
      尾形真規子,岩﨑直子,井出理沙, 富岡光枝,馬場園哲也
    • Organizer
      第61回日本糖尿病学会
    • Related Report
      2018 Research-status Report
  • [Presentation] A novel mutation in the IPF-1/PDX-1 gene identified in a Japanese family with MODY.2017

    • Author(s)
      Iwasaki Naoko, Akagawa Hiroyuki, Hase Michiyo, Takizawa Miho, Ogata Makiko, Babazono Tetsuya
    • Organizer
      日本人類遺伝学会第62回大会
    • Related Report
      2017 Research-status Report
  • [Presentation] 日常診療におけるゲノム医療 ―QOL向上に貢献する個別化医療の実際― 糖尿病治療における個別化医療2017

    • Author(s)
      岩﨑直子
    • Organizer
      日本人類遺伝学会第62回大会
    • Related Report
      2017 Research-status Report
    • Invited
  • [Presentation] 次世代シークエンサーを用いたMODY家系の網羅的遺伝子解析2017

    • Author(s)
      岩﨑直子, 赤川浩之, 長谷美智代, 土屋美保, 佐伯新子, 井出理沙, 尾形真規子, 富岡光枝, 内潟安子
    • Organizer
      第59回日本糖尿病学会
    • Related Report
      2017 Research-status Report
  • [Presentation] A novel mutation in the IPF-1/PDX-1 gene identified in a Japanese family with MODY.2017

    • Author(s)
      IwasakiNaoko, AKAGAWA HIROYUKI, Hase Michiyo, FUJIMAKI Risa, Furukawa Toru, MITANI Shohei, UCHIGATA YASUKO
    • Organizer
      53rd Annual Meeting of the European Association for the Study of Diabetes
    • Related Report
      2017 Research-status Report
    • Int'l Joint Research
  • [Presentation] Newly identified mutation in 5'UTR of HNF4A in a case of MODY32017

    • Author(s)
      Yukari Kiramura,Iwasaki Naoko, Ogata Makiko, AKAGAWA HIROYUKI, Saito Kayoko, YASUKO UCHIGATA
    • Organizer
      The 9th Scientific Meeting of the Asian Associaation for the Study of Diabetes
    • Related Report
      2017 Research-status Report
    • Int'l Joint Research
  • [Presentation] 糖尿病網膜症の発症、進展に関する遺伝因子の解析2017

    • Author(s)
      佐伯新子,中村好宏,北野滋彦,馬場園哲也, 岩﨑直子
    • Organizer
      日本人類遺伝学会第62回大会
    • Related Report
      2017 Research-status Report
  • [Book] 1型糖尿病 治療・ケアのエッセンス 分担執筆 [1型糖尿病と誤診されやすい糖尿病] p50-552018

    • Author(s)
      岩﨑直子、滝澤美保、尾形真規子
    • Total Pages
      269
    • Publisher
      医歯薬出版社
    • ISBN
      9784263236529
    • Related Report
      2017 Research-status Report
  • [Book] 1型糖尿病 治療・ケアのエッセンス 分担執筆 [糖尿病の遺伝子診断と個別化医療] p56-592018

    • Author(s)
      岩﨑直子、滝澤美保、尾形真規子
    • Total Pages
      269
    • Publisher
      医歯薬出版社
    • ISBN
      9784263236529
    • Related Report
      2017 Research-status Report

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Published: 2017-04-28   Modified: 2021-02-19  

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