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Investigation of pathology and development of specific medial care system and treatment associated with FLNA deficiency

Research Project

Project/Area Number 26860796
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Pediatrics
Research InstitutionKyoto University

Principal Investigator

Kawai Tomoki  京都大学, 医学(系)研究科(研究院), 助教 (20631568)

Co-Investigator(Renkei-kenkyūsha) Ohara Osamu  理化学研究所, 免疫ゲノミクス研究グループ, グループディレクター (20370926)
Suzuki Hidenori  日本医科大学, 形態解析共同研究施設, 准教授 (30158977)
Kunishima Shinji  国立病院機構名古屋医療センター, 高度診断研究部分子診断研究室, 室長 (60373495)
Oda Hirotsugu  田附興風会, 医学研究所北野病院小児科, 副部長 (20772239)
Hiejima Eitaro  京都大学, 医学部附属病院小児科, 医員 (60773520)
Project Period (FY) 2014-04-01 – 2016-03-31
Project Status Completed (Fiscal Year 2015)
Budget Amount *help
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2015: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2014: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
KeywordsFLNA / エキソンスキップ / 小児科 / 先天異常 / 小児消化器学 / 国内患者疫学調査 / 新規治療法の開発
Outline of Final Research Achievements

Loss-of-function mutations in FLNA cause variable multiple organ complications in females and are typically lethal to males. This study investigated familial male cases with a loss-of-function mutation in FLNA who showed atypical mild clinical courses. A 4 bp deletion in exon 40 was detected, which was predicted to cause a lethalpremature protein truncation in the patietns. However, intrinsic induced in-frame skipping of the mutated exon led to the translation of a mutant FLNA missing an internal region of 41 amino acids. The exon-skipped FNLA protein was revealed to restore partially its function comparable to the wild type FLNA. The present study expands the diversity of the phenotypes associated with loss-of-function mutations in FLNA and indicated induction of exon skipping could be a theraupic option. In additon, this study indicated the usefulness of rapid daignosis using FLNA immmunnostaining of platelets.

Report

(3 results)
  • 2015 Annual Research Report   Final Research Report ( PDF )
  • 2014 Research-status Report
  • Research Products

    (2 results)

All 2016 2014

All Journal Article (1 results) (of which Int'l Joint Research: 1 results,  Peer Reviewed: 1 results,  Acknowledgement Compliant: 1 results) Presentation (1 results)

  • [Journal Article] Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function2016

    • Author(s)
      Oda H., Sato T., Kunishima S., Nakagawa K., Izawa K., Hiejima E., Kawai T., Yasui T., Doi H., Katamura K., Numabe H., Okamoto S., Nakase H., Hijikata A., Ohara O., Suzuki H., Morisaki H., Morisaki T., Nunoi H., Hattori S., Nishikomori R., Heike T.
    • Journal Title

      Eur J Hum Genet

      Volume: 24 Issue: 3 Pages: 408-414

    • DOI

      10.1038/ejhg.2015.119

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Presentation] エクソンスキップに伴い非典型的な表現型を呈したFilamin A異常症の兄弟例2014

    • Author(s)
      小田紘嗣 河合朋樹 中川権史 日衛嶋栄太郎 井澤和司 西小森隆太 小原收 沼部博直 平家俊男
    • Organizer
      日本小児科学会
    • Place of Presentation
      名古屋
    • Year and Date
      2014-04-12
    • Related Report
      2014 Research-status Report

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Published: 2014-04-04   Modified: 2017-05-10  

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