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primayr ciliary dyskinesia -Establishment of diagnostic methods and algorithms optimized for Japanese -

Research Project

Project/Area Number 18K08196
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Review Section Basic Section 53030:Respiratory medicine-related
Research Institution公益財団法人結核予防会 結核研究所

Principal Investigator

MORIMOTO KOZO  公益財団法人結核予防会 結核研究所, 抗酸菌部 細菌科, 研究員 (40511879)

Co-Investigator(Kenkyū-buntansha) 慶長 直人  公益財団法人結核予防会 結核研究所, 副所長, 副所長 (80332386)
土方 美奈子  公益財団法人結核予防会 結核研究所, 生体防御部, 部長 (90332387)
Project Period (FY) 2018-04-01 – 2021-03-31
Project Status Completed (Fiscal Year 2020)
Budget Amount *help
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2020: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2019: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2018: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Keywords原発性線毛機能不全症候群 / 鼻腔NO測定 / 遺伝子検査 / 電子顕微鏡検査 / 副鼻腔気管支症候群 / 不妊症 / 非結核性抗酸菌症 / 気管支拡張症 / 線毛機能不全症候群 / 男性不妊
Outline of Final Research Achievements

We aimed to establish the PCD diagnostic system following ATS guidelines and clarify the Japanese phenotypic and genotypic patterns. Seventy-six cases were screened and measured nasal NO concentrations. Of the 76 cases, 21 cases showed below the cutoff levels and were diagnosed as probable PCD cases. Gene analyses were performed in 49 cases, and 7 cases had compatible mutations. All 7 cases showed lower NO levels (7/21). We reevaluated a case diagnosed with diffuse panbronchiolitis refractory to macrolide therapy, and identified a large homozygous deletion spanning exons 1 to 4 of the DRC1. Further investigations in the U.S large cohort found that this mutation might be a founder mutation in the Asian. To improve awareness of the disease, we presented our data at several conferences and wrote a review article. Furthermore, we increased the number of genes related to PCD increased to more than 40 and improved the electron microscopy protocol, referring to the U.S method.

Academic Significance and Societal Importance of the Research Achievements

ATSガイドラインに準じた手法を導入し、PCD診断体制を確立した。多くの症例が未診断であり、専門的管理を行う基盤の第一歩と考えている。多数例を集積し本邦実態を明らかとしていくことで難病指定に繋がることが期待される。

Report

(4 results)
  • 2020 Annual Research Report   Final Research Report ( PDF )
  • 2019 Research-status Report
  • 2018 Research-status Report
  • Research Products

    (7 results)

All 2020 2019

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

  • [Journal Article] 発性線毛機能不全症候群2020

    • Author(s)
      森本耕三, 土方美奈子, Tz-Chun Guo,宮林亜希子, 山田博之, 慶長直人
    • Journal Title

      呼吸臨床

      Volume: 4

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Primary ciliary dyskinesia caused by a large homozygous deletion including exons 1?4 of DRC1 in Japanese patients with recurrent sinopulmonary infection2019

    • Author(s)
      Keicho Naoto、Hijikata Minako、Morimoto Kozo、Homma Sakae、Taguchi Yoshio、Azuma Arata、Kudoh Shoji
    • Journal Title

      Molecular Genetics & Genomic Medicine

      Volume: 8 Issue: 1 Pages: 19-32

    • DOI

      10.1002/mgg3.1033

    • Related Report
      2020 Annual Research Report 2019 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Primary ciliary dyskinesia in Japan: systematic review and meta-analysis.2019

    • Author(s)
      Inaba A, Furuhata M, Morimoto K, Rahman M, Takahashi O, Hijikata M, Knowles MR, Keicho N.
    • Journal Title

      BMC Pulm Med

      Volume: 25 Issue: 1 Pages: 135-135

    • DOI

      10.1186/s12890-019-0897-4

    • Related Report
      2019 Research-status Report
  • [Journal Article] Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients.2019

    • Author(s)
      Morimoto K, Hijikata M, Zariwala MA, Nykamp K, Inaba A, Guo TC, Yamada H, Truty R, Sasaki Y, Ohta K, Kudoh S, Leigh MW, Knowles MR, Keicho N.
    • Journal Title

      Mol Genet Genomic Med

      Volume: 7 Issue: 8

    • DOI

      10.1002/mgg3.838

    • Related Report
      2019 Research-status Report
  • [Presentation] アジア人における創始者変異が疑われた、DRC1の広範囲欠失を有する原発性線毛機能不全症候群の一例2020

    • Author(s)
      森本耕三,古内浩司,大澤武司,荒川健一,田中良明,吉森浩三,土方美奈子,慶長直人,大田 健
    • Organizer
      第177回 日本結核・非結核性抗酸菌症学会関東支部学会第238回 日本呼吸器学会関東地方会
    • Related Report
      2020 Annual Research Report
  • [Presentation] ATSガイドラインに準じて診断を行った原発性線毛機能不全症候群(PCD)の1例2020

    • Author(s)
      森本耕三, 小林正芳, 田中良明, 古内浩司, 大澤武司, 藤原啓司, 吉森浩三, 土方美奈子, 慶長直人, 大田健
    • Organizer
      第237回 日本呼吸器学会関東地方
    • Related Report
      2019 Research-status Report
  • [Presentation] アジア人における創始者変異が疑われた、DRC1の広範囲欠失を有する原発性線毛機能不全症候群の一例2019

    • Author(s)
      森本耕三, 古内浩司, 大澤武司, 荒川健一, 田中良明, 吉森浩三, 土方美奈子, 慶長直人, 大田健
    • Organizer
      第177回日本結核・非結核性抗酸菌症学会関東支部学会・第238回日本呼吸器学会関東地方会
    • Related Report
      2019 Research-status Report

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Published: 2018-04-23   Modified: 2022-01-27  

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