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Research in the improvement in diagnostic accuracy for primary ciliary dyskinesia

Research Project

Project/Area Number 25462662
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Otorhinolaryngology
Research InstitutionMie University

Principal Investigator

TAKEUCHI Kazuhiko  三重大学, 医学(系)研究科(研究院), 教授 (50206942)

Co-Investigator(Kenkyū-buntansha) KITANO Masako  三重大学, 医学部附属病院, 助教 (20378334)
FUJISAWA Takao  独立行政法人国立病院機構三重病院(臨床研究部), 小児科・アレルギー科, 院長 (20511140)
NAKATANI Kaname  三重大学, 医学部附属病院, 教授 (80237304)
Research Collaborator OGAWA Satoru  
Project Period (FY) 2013-04-01 – 2016-03-31
Project Status Completed (Fiscal Year 2015)
Budget Amount *help
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2015: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2014: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2013: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Keywords線毛 / 遺伝子変異 / 電子顕微鏡 / 一酸化窒素 / 常染色体劣性遺伝 / 滲出性中耳炎 / 慢性副鼻腔炎 / 気管支拡張症 / 遺伝子
Outline of Final Research Achievements

The diagnosis of primary ciliary dyskinesia (PCD) requires the presence of the characteristic clinical phenotypes and either: 1) specific ciliary ultrastructural defects identified by transmission electron microscopy; or 2) identification of mutation in one of the genes known to be associated with PCD. The diagnosis of PCD is not easy. We have identified ciliary ultrastuructual defects in ten out of 21 PCD suspected patients, by assessing about 100 cilia per patient before reaching a diagnosis. Moreover, we have conducted genetic analysis in 21 patients with suspicion of PCD and found disease causing mutations in four patients. The analysis of their genomic DNA revealed compound heterozygous mutations in DNAH5 in one patient, homozygous mutations in DNAI1 in two siblings, and heterozygous missense mutation in DNAH1 in one patient. Although these four mutations we found were from known PCD causing genes, all the four were novel mutations and probably unique to Japanese populations.

Report

(3 results)
  • 2015 Annual Research Report   Final Research Report ( PDF )
  • 2013 Research-status Report
  • Research Products

    (11 results)

All 2016 2015 2014 Other

All Journal Article (5 results) (of which Peer Reviewed: 3 results,  Open Access: 2 results,  Acknowledgement Compliant: 2 results) Presentation (5 results) (of which Int'l Joint Research: 1 results,  Invited: 1 results) Remarks (1 results)

  • [Journal Article] Primary ciliary dyskinesia with complex abnormalities including cleavage of B-subfiber.2016

    • Author(s)
      Orimo K, Kondo M, Arimura K, Takeyama K, Takeuchi K, Tamaoki J.
    • Journal Title

      Respirol Case Rep

      Volume: 4 Issue: 2

    • DOI

      10.1002/rcr2.150

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Recent advances in primary ciliary dyskinesia2016

    • Author(s)
      Takeuchi K, Kitano M, Ishinaga H, Kobayashi M, Ogawa S, Nakatani K, Masuda S, Nagao M, Fujisawa T
    • Journal Title

      Auris Nasus Larynx

      Volume: 43 Issue: 3 Pages: 229-236

    • DOI

      10.1016/j.anl.2015.09.012

    • NAID

      130004553869

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Whole-exome sequencing identifies novel DNAH5 mutations in a Japanese boy with primary ciliary dyskinesia.2016

    • Author(s)
      Kano G, Tsujii H, Takeuchi K, Nakatani K, Ikejiri M, Ogawa S, Kubo H, Nagao M, Fujisawa T
    • Journal Title

      Molecular Medicine Reports

      Volume: 印刷中

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] 線毛運動障害:軽症から重症まで2015

    • Author(s)
      竹内万彦
    • Journal Title

      小児科診療

      Volume: 78 Pages: 903-911

    • Related Report
      2015 Annual Research Report
  • [Journal Article] 原発性線毛運動不全症-最近の進歩2014

    • Author(s)
      竹内万彦
    • Journal Title

      耳鼻臨床

      Volume: 107 Pages: 345-353

    • NAID

      130004553869

    • Related Report
      2013 Research-status Report
  • [Presentation] 全エクソーム解析により明らかとなった原発性線毛運動不全症患児のDNAH5 新規変異2016

    • Author(s)
      竹内 万彦
    • Organizer
      第11回日本小児耳鼻咽喉科学会総会
    • Place of Presentation
      ホテルクレメント徳島(徳島県・徳島市)
    • Year and Date
      2016-06-30
    • Related Report
      2015 Annual Research Report
  • [Presentation] 原発性線毛運動不全症の原因遺伝子の解析2016

    • Author(s)
      竹内 万彦
    • Organizer
      第117回日本耳鼻咽喉科学会通常総会・学術講演会
    • Place of Presentation
      名古屋国際会議場(愛知県・名古屋市)
    • Year and Date
      2016-05-21
    • Related Report
      2015 Annual Research Report
  • [Presentation] Primary ciliary dyskinesia in the Japanese population2015

    • Author(s)
      Takeuchi K
    • Organizer
      the 13th Japan-Taiwan Conference on Otolaryngology-Head and Neck Surgery
    • Place of Presentation
      Hitotsubashi Hall(東京都・千代田区)
    • Year and Date
      2015-12-04
    • Related Report
      2015 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] 原発性線毛運動不全症の遺伝子解析2015

    • Author(s)
      竹内 万彦、増田佐和子、中谷 中
    • Organizer
      日本人類遺伝学会 第 60 回大会
    • Place of Presentation
      京王プラザホテル(東京都・新宿区)
    • Year and Date
      2015-10-14
    • Related Report
      2015 Annual Research Report
  • [Presentation] 異なる表現型を呈した原発性線毛運動不全症の同胞例2014

    • Author(s)
      竹内万彦、北野雅子、坂井田 寛、中村 哲
    • Organizer
      第76回耳鼻咽喉科臨床学会
    • Place of Presentation
      岩手県盛岡市
    • Related Report
      2013 Research-status Report
  • [Remarks] 原発性線毛運動不全症の診断

    • URL

      http://www.medic.mie-u.ac.jp/otolaryngology/study/index.html#study01

    • Related Report
      2015 Annual Research Report

URL: 

Published: 2014-07-25   Modified: 2019-07-29  

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