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Does serum FGF21 determine severity for mitochondrial disorders?

Research Project

Project/Area Number 25860891
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Pediatrics
Research InstitutionKurume University

Principal Investigator

Yatsuga Shuichi  久留米大学, 医学部, 助教 (10454919)

Co-Investigator(Renkei-kenkyūsha) KOGA Yasutoshi  久留米大学, 小児科, 教授 (00225400)
NISHIOKA Junko  久留米大学, 小児科, 助教 (00449919)
SASAKI Takako  久留米大学, 小児科, 助教 (80726547)
USHIJIMA Kikumi  久留米大学, 小児科, 助教 (00750829)
SAIKI Reo  久留米大学, 小児科, 助教 (40726577)
KITAMURA Miyuki  久留米大学, 小児科, 助教 (70772911)
Project Period (FY) 2013-04-01 – 2016-03-31
Project Status Completed (Fiscal Year 2015)
Budget Amount *help
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2015: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2014: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Fiscal Year 2013: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Keywordsミトコンドリア病 / GDF15 / FGF21 / バイオマーカー / JMDRS / NMDAS
Outline of Final Research Achievements

We evaluated that serum FGF21 was a useful biomarker for mitochondrial disorders in Japanese population. At the same time, FGF21 was correlated with severity for mitochondrial disorders. Severity score was used for JMDRS and NMDAS.
Moreover, we evaluated that serum GDF15 was a most useful biomarker for mitochondrial disorders compared conventional biomarkers including FGF21. Severity was 97.9% and Specificity was 95.2% (Yasuga S, et al. 2015).

Report

(4 results)
  • 2015 Annual Research Report   Final Research Report ( PDF )
  • 2014 Research-status Report
  • 2013 Research-status Report
  • Research Products

    (42 results)

All 2016 2015 2014 2013 Other

All Journal Article (6 results) (of which Int'l Joint Research: 1 results,  Peer Reviewed: 5 results,  Open Access: 3 results,  Acknowledgement Compliant: 2 results) Presentation (36 results) (of which Invited: 4 results)

  • [Journal Article] Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders.2015

    • Author(s)
      Yatsuga S, Fujita Y, Ishii A, Fukumoto Y, Arahata H, Kakuma T, Kojima T, Ito M, Tanaka M, Saiki R, Koga Y.
    • Journal Title

      Ann Neurol

      Volume: 78 Issue: 5 Pages: 814-823

    • DOI

      10.1002/ana.24506

    • NAID

      120007135881

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] (2014) GDF15 is a novel biomarker to evaluate efficacy of pyruvate therapy for mitochondrial diseases2015

    • Author(s)
      Yasunori Fujita, Masafumi Ito, Toshio Kojima, Shuichi Yatsuga, Yasutoshi Koga, Masashi Tanaka
    • Journal Title

      Mitochondrion

      Volume: 20 Pages: 34-42

    • DOI

      10.1016/j.mito.2014.10.006

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism2014

    • Author(s)
      Izumi Y, Suzuki E, Kanzaki S, Yatsuga S, Kinjo S, Igarashi M, Maruyama T, Sano S, Horikawa R, Sato N, Nakabayashi K, Hata K, Umezawa A, Ogata T, Yoshimura Y, Fukami M
    • Journal Title

      Fertil Steril

      Volume: 102(4) Issue: 4 Pages: 1130-1136

    • DOI

      10.1016/j.fertnstert.2014.06.017

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] ミトコンドリア病の新しいバイオマーカーFGF212014

    • Author(s)
      八ツ賀秀一、古賀靖敏
    • Journal Title

      Clinical Neuroscience

      Volume: 32 Pages: 704-705

    • Related Report
      2014 Research-status Report
  • [Journal Article] De novo frameshift mutation in fibroblast growth factor 8 in a male patient with gonadotropin deficiency2013

    • Author(s)
      Suzuki E, Yatsuga S, Igarashi M, Miyado M, Nakabayashi K, Hayashi K, Hata K, Umezawa A, Yamada G, Ogata T, Fukami M*
    • Journal Title

      Horm Res Paediatr ,

      Volume: 81 Issue: 2 Pages: 139-144

    • DOI

      10.1159/000355380

    • Related Report
      2014 Research-status Report 2013 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Glycogenic hepatopathy and non-alcoholic fatty liver disease in type 1 diabetes patients2013

    • Author(s)
      Saikusa M, Yatsuga S, Tonan T, Koga Y
    • Journal Title

      Pediatrics International

      Volume: Dec;55(6) Issue: 6 Pages: 806-807

    • DOI

      10.1111/ped.12235

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Presentation] GDF15はミトコンドリア病の新規バイオマーカーとして有用2016

    • Author(s)
      八ツ賀秀一
    • Organizer
      第8回福岡県医学会総会
    • Place of Presentation
      福岡県医師会館(福岡市)
    • Year and Date
      2016-02-07
    • Related Report
      2015 Annual Research Report
  • [Presentation] ミトコンドリア病の新規バイオマーカー2016

    • Author(s)
      八ツ賀秀一
    • Organizer
      第126回筑後地区内分泌代謝疾患症例検討会
    • Place of Presentation
      久留米医師会館(久留米市)
    • Year and Date
      2016-02-04
    • Related Report
      2015 Annual Research Report
    • Invited
  • [Presentation] Development of biomarkers for mitochondrial disorders2015

    • Author(s)
      Shuichi Yatsuga
    • Organizer
      熊本大学大学院セミナー
    • Place of Presentation
      熊本大学
    • Year and Date
      2015-12-16
    • Related Report
      2015 Annual Research Report
    • Invited
  • [Presentation] ミトコンドリア病類縁疾患におけるGDF15・FGF21の検討2015

    • Author(s)
      八ツ賀秀一、石井亜紀子、喜多村美幸、佐々木孝子、牛嶋規久美、齊木玲央、古賀靖敏
    • Organizer
      第15回日本ミトコンドリア学会年会
    • Place of Presentation
      福井県国際交流会館(福井県福井市)
    • Year and Date
      2015-11-19
    • Related Report
      2015 Annual Research Report
  • [Presentation] GDF15 as a useful biomarker for mitochondrial disorders2015

    • Author(s)
      Shuichi Yatsuga
    • Organizer
      Molecular Mitochondria - Joint Seminar of Young Finnish-Japanese Mitoscientists
    • Place of Presentation
      Helsinki, Finland
    • Year and Date
      2015-10-08
    • Related Report
      2015 Annual Research Report
    • Invited
  • [Presentation] Development of biomarkers for mitochondrial disorders2015

    • Author(s)
      Shuichi Yatsuga
    • Organizer
      Molecular Mitochondria - Joint Seminar of Young Finnish-Japanese Mitoscientists
    • Place of Presentation
      Helsinki, Finland
    • Year and Date
      2015-10-07
    • Related Report
      2015 Annual Research Report
    • Invited
  • [Presentation] GDF-15:最も信頼できるミトコンドリア病のバイオマーカー2015

    • Author(s)
      八ツ賀秀一、石井亜紀子、角間辰之、古賀靖敏
    • Organizer
      第57回日本小児神経学会学術集会
    • Place of Presentation
      帝国ホテル 大阪(大阪市)
    • Year and Date
      2015-05-28
    • Related Report
      2015 Annual Research Report
  • [Presentation] GDF-15とFGF-21はミトコンドリア病の重症度と相関する2015

    • Author(s)
      八ツ賀秀一、角間辰之、古賀靖敏
    • Organizer
      第57回日本小児神経学会学術集会
    • Place of Presentation
      帝国ホテル 大阪(大阪市)
    • Year and Date
      2015-05-28
    • Related Report
      2015 Annual Research Report
  • [Presentation] 健康な日本人におけるFGF21の検討2015

    • Author(s)
      八ツ賀秀一、佐々木孝子、西岡淳子、片山幸樹、牛嶋規久美、古賀靖敏
    • Organizer
      第88回日本内分泌学会学術総会
    • Place of Presentation
      ホテルニューオータニ東京(東京都)
    • Year and Date
      2015-04-24
    • Related Report
      2015 Annual Research Report
  • [Presentation] GDF15 is a novel biomarker of mitochondrial diseases2015

    • Author(s)
      Shuichi Yatsuga, Akiko Ishii, Yoshihiro Fukumoto, Hajime Arahata, Tatsuyuki Kakuma, Yasutoshi Koga
    • Organizer
      Society for Inherited Metabolic Disorders 2015
    • Place of Presentation
      Grand America Hotel (Salt Lake City, USA)
    • Year and Date
      2015-03-29
    • Related Report
      2014 Research-status Report
  • [Presentation] 低身長児における血清亜鉛の検討2015

    • Author(s)
      西岡淳子、佐々木孝子、八ツ賀秀一、牛嶋規久美、片山幸樹、古賀靖敏、松石豊次郎
    • Organizer
      第483回日本小児科学会福岡地方会例会
    • Place of Presentation
      久留米大学筑水会館(福岡県久留米市)
    • Year and Date
      2015-02-14
    • Related Report
      2014 Research-status Report
  • [Presentation] 低ゴナドトロピン性性腺機能低下症58例の網羅的遺伝子解析2015

    • Author(s)
      鈴木江莉奈、泉陽子、神崎晋、八ツ賀秀一、金城さおり、五十嵐麻希、中林一彦、梅澤明弘、秦健一郎、緒方勤、深見真紀
    • Organizer
      第19回日本生殖内分泌学会学術集会
    • Place of Presentation
      千里ライフサイエンスセンター(大阪府豊中市)
    • Year and Date
      2015-01-10
    • Related Report
      2014 Research-status Report
  • [Presentation] 保健所と医療の連携により高度肥満から虐待が疑われ迅速に対応できた一例2014

    • Author(s)
      八ツ賀秀一、家村明子、佐々木孝子、西岡淳子、片山幸樹、牛島規久美、古賀靖敏、松石豊次郎
    • Organizer
      第482回日本小児科学会福岡地方会例会
    • Place of Presentation
      福岡大学メディカルホール(福岡県福岡市)
    • Year and Date
      2014-12-13
    • Related Report
      2014 Research-status Report
  • [Presentation] GDF-15 & FGF-21:ミトコンドリア病の新規バイオマーカー2014

    • Author(s)
      八ツ賀秀一、 石井亜紀子、藤田泰典、小島俊男、伊藤雅史、田中雅嗣、角間辰之、古賀靖敏
    • Organizer
      第14回日本ミトコンドリア学会年会
    • Place of Presentation
      九州大学医学部百年講堂(福岡県福岡市)
    • Year and Date
      2014-12-04
    • Related Report
      2014 Research-status Report
  • [Presentation] GDF15はミトコンドリア病の新しいバイオマーカーになる2014

    • Author(s)
      八ツ賀秀一、古賀靖敏
    • Organizer
      第56回日本先天代謝異常学会
    • Place of Presentation
      江陽グランドホテル(宮城県仙台市)
    • Year and Date
      2014-11-14
    • Related Report
      2014 Research-status Report
  • [Presentation] 健康日本人の血漿FGF21値の検討2014

    • Author(s)
      八ツ賀秀一、佐々木孝子、古賀靖敏
    • Organizer
      第48回日本小児内分泌学会学術集会
    • Place of Presentation
      アクトシティ浜松(静岡県浜松市)
    • Year and Date
      2014-09-26
    • Related Report
      2014 Research-status Report
  • [Presentation] 神経性食思不振症に甲状腺機能亢進を合併した1例2014

    • Author(s)
      佐々木孝子、八ツ賀秀一、西岡淳子、古賀靖敏
    • Organizer
      第48回日本小児内分泌学会学術集会
    • Place of Presentation
      アクトシティ浜松(静岡県浜松市)
    • Year and Date
      2014-09-26
    • Related Report
      2014 Research-status Report
  • [Presentation] 複合型下垂体ホルモン不全症患者におけるWDR11スプライスサイト変異の同定2014

    • Author(s)
      泉陽子、西岡淳子、八ツ賀秀一、鈴木江莉奈、佐野伸一朗、中林一彦、梅澤明弘、秦健一郎、緒方勤、深見真紀
    • Organizer
      第48回日本小児内分泌学会学術集会
    • Place of Presentation
      アクトシティ浜松(静岡県浜松市)
    • Year and Date
      2014-09-25
    • Related Report
      2014 Research-status Report
  • [Presentation] Growth differentiation factor 15 and fibroblast growth factor 21: novel biomarkers for mitochondrial diseases2014

    • Author(s)
      Shuichi YATSUGA, Yasutoshi KOGA
    • Organizer
      53rd Annual ESPE Meeting
    • Place of Presentation
      Convention Centre Dublin (Dublin, Ireland)
    • Year and Date
      2014-09-18
    • Related Report
      2014 Research-status Report
  • [Presentation] Clinical and Molecular Characterization of the Largest Family with Congenital Hypothyroidism due to a PAX8 Mutation2014

    • Author(s)
      Kiyomi Abe, Satoshi Narumi, Junko Nishioka, Shuichi Yatsuga, Tateo Kuno, Kaori Kameyama, Tomonobu Hasegawa
    • Organizer
      ENDO 2014
    • Place of Presentation
      McCormick Place (Chicago, USA)
    • Year and Date
      2014-06-20
    • Related Report
      2014 Research-status Report
  • [Presentation] Growth differentiation factor 15 and fibroblast growth factor 21: novel biomarkers for mitochondrial diseases2014

    • Author(s)
      Shuichi YATSUGA, Yasutoshi KOGA
    • Organizer
      EuroMIT 2014
    • Place of Presentation
      Tampere hall (Tampere, Finland)
    • Year and Date
      2014-06-16
    • Related Report
      2014 Research-status Report
  • [Presentation] Growth differentiation factor 15 and fibroblast growth factor 21: novel biomarkers for mitochondrial diseases2014

    • Author(s)
      Shuichi YATSUGA, Yasutoshi KOGA
    • Organizer
      Mitochondrial Medicine 2014
    • Place of Presentation
      Sheraton Station Square Hotel (Pittsburgh, USA)
    • Year and Date
      2014-06-06
    • Related Report
      2014 Research-status Report
  • [Presentation] 血漿FGF21は筋症状を伴うミトコンドリア病のバイオマーカーになる2014

    • Author(s)
      八ツ賀秀一、古賀靖敏
    • Organizer
      第56回日本小児神経学会学術集会
    • Place of Presentation
      アクトシティ浜松(静岡県浜松市)
    • Year and Date
      2014-05-31
    • Related Report
      2014 Research-status Report
  • [Presentation] ピルビン酸ナトリウムを開始したミトコンドリア呼吸鎖異常症の6か月男児2014

    • Author(s)
      金城さおり、豊浦麻記子、吉年俊文、喜久山至、小濱守安、閑野将行、源川隆一、八ツ賀秀一、古賀靖敏
    • Organizer
      第87回日本内分泌学会学術総会
    • Place of Presentation
      福岡国際会議場(福岡県福岡市)
    • Year and Date
      2014-04-26
    • Related Report
      2014 Research-status Report
  • [Presentation] DAX1過剰を認めた46,Y,add(X)(p22.1) DSDの一例2014

    • Author(s)
      佐々木孝子、泉陽子、深見真紀、八ツ賀秀一、古賀靖敏
    • Organizer
      第117回日本小児科学会学術集会
    • Place of Presentation
      名古屋国際会議場(愛知県名古屋市)
    • Year and Date
      2014-04-12
    • Related Report
      2014 Research-status Report
  • [Presentation] Prader-Willi症候群:双子の思春期早発例2014

    • Author(s)
      八ツ賀秀一、牛島高介、古賀靖敏
    • Organizer
      第37回日本小児遺伝学会学術集会
    • Place of Presentation
      名古屋市立大学会議室(愛知県名古屋市)
    • Year and Date
      2014-04-10
    • Related Report
      2014 Research-status Report
  • [Presentation] 内分泌専門外来開設1年間における経過報告2014

    • Author(s)
      西奈津子、力武典子、八ツ賀秀一
    • Organizer
      第69回日本小児科学会佐賀地方会例会
    • Place of Presentation
      佐賀大学小講堂(佐賀県佐賀市)
    • Year and Date
      2014-04-05
    • Related Report
      2014 Research-status Report
  • [Presentation] 血糖コントロール不良1型糖尿病のglycogenic hepatopathyはMRIで診断可能か?2013

    • Author(s)
      七種護、八ツ賀秀一、片山幸樹、西岡淳子、古賀靖敏、松石豊次郎
    • Organizer
      第116回日本小児科学会学術集会
    • Place of Presentation
      広島国際会議場
    • Related Report
      2013 Research-status Report
  • [Presentation] Fibroblast growth factor 21 (FGF21): A biomarker of mitochondrial diseases but not endocrine diseases2013

    • Author(s)
      Yatsuga S, Koga Y
    • Organizer
      52th annual European Society of Pediatric Endocrinology meeting
    • Place of Presentation
      Milan, Italy
    • Related Report
      2013 Research-status Report
  • [Presentation] Kallmann 症候群患者におけるFGF8 フレームシフト変異の同定2013

    • Author(s)
      鈴木江莉奈、八ツ賀秀一、五十嵐麻希、宮戸真美、中林一彦、秦健一郎、緒方勤、深見真紀
    • Organizer
      第47回小児内分泌学会学術集会
    • Place of Presentation
      東京
    • Related Report
      2013 Research-status Report
  • [Presentation] 4世代にわたる世界最大のPAX8変異要請甲状腺機能低下症家系ー甲状腺表現型の多様性ー2013

    • Author(s)
      佐々木孝子、阿部清美、鳴海覚志、長谷川奉延、西岡淳子、片山幸樹、八ツ賀秀一、古賀靖敏、久野建夫
    • Organizer
      第47回小児内分泌学会学術集会
    • Place of Presentation
      東京
    • Related Report
      2013 Research-status Report
  • [Presentation] FGF21:疾患特異的バイオマーカーの探索2013

    • Author(s)
      八ツ賀秀一、古賀靖敏
    • Organizer
      第47回小児内分泌学会学術集会
    • Place of Presentation
      東京
    • Related Report
      2013 Research-status Report
  • [Presentation] 正常身長の両親を有するGH単独欠損症II型の1例-GH1遺伝子検索の有用性-2013

    • Author(s)
      片山幸樹、長崎啓祐、深見真紀、八ツ賀秀一、西岡淳子、古賀靖敏
    • Organizer
      第47回小児内分泌学会学術集会
    • Place of Presentation
      東京
    • Related Report
      2013 Research-status Report
  • [Presentation] Follow-up study: FGF21 is a new biomarker to diagnose muscle-related mitochondrial diseases in Japanese patients2013

    • Author(s)
      Yatsuga S、Koga Y
    • Organizer
      第13回日本ミトコンドリア学会
    • Place of Presentation
      東京
    • Related Report
      2013 Research-status Report
  • [Presentation] 4世代にわたる世界最大の新規PAX8変異陽性甲状腺機能低下症家系:甲状腺表現型の多様性2013

    • Author(s)
      阿部清美、西岡淳子、八ツ賀秀一、久野建夫、鳴海覚志、長谷川奉延
    • Organizer
      第56回日本甲状腺学会学術集会
    • Place of Presentation
      和歌山市
    • Related Report
      2013 Research-status Report
  • [Presentation] 重症心身障害者施設でデスモプレシン製剤を点鼻から経口へ切り替えた口渇の訴えのない1症例

    • Author(s)
      八ツ賀秀一、古賀靖敏、松石豊次郎、大滝悦生、松尾勇作、稲田浩子、本廣孝
    • Organizer
      第477回日本小児科学会福岡地方会
    • Place of Presentation
      福岡県久留米市
    • Related Report
      2013 Research-status Report

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

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