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molecular basis and a new genetic cause of primary aderenal insufficiency

Research Project

Project/Area Number 16K09998
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Pediatrics
Research InstitutionKeio University

Principal Investigator

Amano Naoko  慶應義塾大学, 医学部(信濃町), 共同研究員 (70348689)

Project Period (FY) 2016-04-01 – 2019-03-31
Project Status Completed (Fiscal Year 2018)
Budget Amount *help
¥3,380,000 (Direct Cost: ¥2,600,000、Indirect Cost: ¥780,000)
Fiscal Year 2018: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2017: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2016: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Keywords副腎機能低下症 / 発生分化 / 副腎 / 副腎低形成症 / 副腎皮質 / 発生 / 遺伝子 / 小児内分泌学
Outline of Final Research Achievements

We enrolled 63 Japanese children (59 families) with biochemically uncharacterized PAI, and sequenced 12 PAI-associated genes. We calculated the proportion of mutation-carrying patients according to demographic characteristics. We identified genetic defects in 50 (85%) families: STAR in 19, NR0B1 in 18, SAMD9 in seven, AAAS in two, NNT in two, MC2R in one and CDKN1C in one. This work was published in the peer-reviewed academic journal‘European journal of endocrinology.’
We identified submicroscopic deletions in the gene A in three patients with adrenal hypoplasia. The in vitro study using the HEK293 cells having stable expression of gene A revealed that β-catenin producing-capacity would decrease in the identified gene A-deleted cells.

Academic Significance and Societal Importance of the Research Achievements

本邦おける「生化学診断が困難な原発性副腎皮質機能低下症」の分子基盤および各単一遺伝子疾患の臨床的特徴を明らかとした。さらに先天性副腎低形成症の新規責任遺伝子を発見し、その分子機構がWnt-βカテニンシグナル系の低下であることを明らかにする。最終的にはヒトの副腎発生分化におけるWnt-βカテニンシグナル系の意義を解明することが目標である。

Report

(4 results)
  • 2018 Annual Research Report   Final Research Report ( PDF )
  • 2017 Research-status Report
  • 2016 Research-status Report
  • Research Products

    (5 results)

All 2018 2017

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

  • [Journal Article] Pubertal Development and Pregnancy Outcomes in 46,XX Patients with Nonclassic Lipoid Congenital Adrenal Hyperplasia.2018

    • Author(s)
      Hatabu N, Amano N, Mori J, Hasegawa Y, Matsuura H, Sumitomo N, Nishizawa K, Suzuki M, Katakura S, Kanamoto N, Kamimaki T, Ishii T, Hasegawa T
    • Journal Title

      J Clin Endocrinol Metab

      Volume: ePub ahead Issue: 5 Pages: 1866-1870

    • DOI

      10.1210/jc.2018-01752

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Comment on: Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features of dyskeratosis congenita and IMAGe association.2018

    • Author(s)
      Wilson DB, Bessler M, Ferkol TW, Shenoy S, Amano N, Ishii T, Shima H, Narumi S.
    • Journal Title

      Pediatric Blood and Cancer

      Volume: 65 Issue: 1

    • DOI

      10.1002/pbc.26747

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Genetic Defects in Pediatric-onset Adrenal Insufficiency in Japan2017

    • Author(s)
      Amano N, Narumi S, Hayashi M, Takagi M, Imai K, Nakamura T, Hachiya R, Sasaki G, Homma K, Ishii T, Hasegawa T
    • Journal Title

      Eur J Endocrinol

      Volume: 177 Issue: 2 Pages: 187-194

    • DOI

      10.1530/eje-17-0027

    • Related Report
      2017 Research-status Report
    • Peer Reviewed
  • [Journal Article] A novel case of somatic KCNJ5 mutation in pediatric-onset aldosterone- producing adenoma2017

    • Author(s)
      Uchida N, Amano N, Yamaoka Y, Uematsu A, Sekine Y, Suzuki M, Watanabe J, Nishimoto K, Mukai K, Fukuzawa R, Hasegawa T, Ishii T
    • Journal Title

      J Endocrine Soc

      Volume: 1 Issue: 8 Pages: 1056-1061

    • DOI

      10.1210/js.2017-00210

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Presentation] 小児期発症原発性副腎皮質機能低下症63例における遺伝子異常:STAR変異例の遺伝子型と臨床的特徴2017

    • Author(s)
      天野直子、鳴海覚志、林美恵、蜂屋瑠見、高木優樹、佐々木悟郎、本間桂子、石井智弘、長谷川奉延
    • Organizer
      第51回日本小児内分泌学会学術集会
    • Related Report
      2017 Research-status Report

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Published: 2016-04-21   Modified: 2020-03-30  

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