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Comparison of GLA variants of unknown significance and the specific mutations causing moderate Fabry disease

Research Project

Project/Area Number 18K15071
Research Category

Grant-in-Aid for Early-Career Scientists

Allocation TypeMulti-year Fund
Review Section Basic Section 49010:Pathological biochemistry-related
Research InstitutionMeiji Pharmaceutical University

Principal Investigator

Tsukimura Takahiro  明治薬科大学, 薬学部, 講師 (50632783)

Project Period (FY) 2018-04-01 – 2022-03-31
Project Status Completed (Fiscal Year 2021)
Budget Amount *help
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2019: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2018: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Keywordsライソゾーム病 / 遺伝子変異 / 臨床表現型
Outline of Final Research Achievements

Fabry disease is caused by mutation of GLA gene, leading to deficiency of α-galactosidase A activity. In this study, we compared functional polymorphisms with mutations leading to later-onset Fabry disease. The stability of GLA proteins of functional polymorphism was more stable than those of mutation with later-onset at neutral pH condition.

Academic Significance and Societal Importance of the Research Achievements

ファブリー病の診断において、新しいGLA遺伝子変異が見つかった場合、それが病気を引き起こす遺伝子変異であるか否かの判断が難しいことがあり、臨床現場で問題となっています。今回の研究成果は、ファブリー病のメカニズムの一部を明らかにしたとともに、新しい遺伝子変異が見つかった場合に病気を引き起こす遺伝子変異であるか判断するための有益な参考情報になると考えられます。

Report

(5 results)
  • 2021 Annual Research Report   Final Research Report ( PDF )
  • 2020 Research-status Report
  • 2019 Research-status Report
  • 2018 Research-status Report
  • Research Products

    (26 results)

All 2021 2020 2019 2018

All Journal Article (10 results) (of which Peer Reviewed: 10 results,  Open Access: 9 results) Presentation (16 results)

  • [Journal Article] Does administration of hydroxychloroquine/amiodarone accelerate accumulation of globotriaosylceramide and globotriaosylsphingosine in Fabry mice?2021

    • Author(s)
      Tsukimura Takahiro、Shiga Tomoko、Saito Koki、Ogawa Yasuhiro、Sakuraba Hitoshi、Togawa Tadayasu
    • Journal Title

      Molecular Genetics and Metabolism Reports

      Volume: 28 Pages: 100773-100773

    • DOI

      10.1016/j.ymgmr.2021.100773

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Comparative urinary globotriaosylceramide analysis by thin-layer chromatography-immunostaining and liquid chromatography-tandem mass spectrometry in patients with Fabry disease2021

    • Author(s)
      Shiga Tomoko、Tsukimura Takahiro、Namai Yurie、Togawa Tadayasu、Sakuraba Hitoshi
    • Journal Title

      Molecular Genetics and Metabolism Reports

      Volume: 29 Pages: 100804-100804

    • DOI

      10.1016/j.ymgmr.2021.100804

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Screening of Fabry disease in patients with chronic kidney disease in Japan2021

    • Author(s)
      Nagata Akiko、Nasu Makoto、Kaida Yusuke、Nakayama Yosuke、Kurokawa Yuka、Nakamura Nao、Shibata Ryo、Hazama Takuma、Tsukimura Takahiro、Togawa Tadayasu、Saito Seiji、Sakuraba Hitoshi、Fukami Kei
    • Journal Title

      Nephrology Dialysis Transplantation

      Volume: 37 Issue: 1 Pages: 115-125

    • DOI

      10.1093/ndt/gfaa324

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Genetically Modified Cell Transplantation Through Macroencapsulated Spheroids with Scaffolds to Treat Fabry Disease2021

    • Author(s)
      Kami Daisuke、Suzuki Yosuke、Yamanami Masashi、Tsukimura Takahiro、Togawa Tadayasu、Sakuraba Hitoshi、Gojo Satoshi
    • Journal Title

      Cell Transplantation

      Volume: 30 Pages: 096368972110602-096368972110602

    • DOI

      10.1177/09636897211060269

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Surface plasmon resonance analysis of complex formation of therapeutic recombinant lysosomal enzymes with domain 9 of human cation-independent mannose 6-phosphate receptor2020

    • Author(s)
      Kanzaki Minori、Tsukimura Takahiro、Chiba Yasunori、Sakuraba Hitoshi、Togawa Tadayasu
    • Journal Title

      Molecular Genetics and Metabolism Reports

      Volume: 25 Pages: 100639-100639

    • DOI

      10.1016/j.ymgmr.2020.100639

    • Related Report
      2020 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] The study investigating the determination of protamine in seminal plasma from azoospermic donors: Suggestion of new methods to diagnose obstructive azoospermia, and to capture childbearing sperm for testicular sperm extraction (TESE) and insemination sperm injection (ICSI)2020

    • Author(s)
      Katayama Masatoki、Kaneko Satoru、Tsukimura Takahiro、Takamatsu Kiyoshi、Togawa Tadayasu
    • Journal Title

      Analytical Biochemistry

      Volume: 604 Pages: 113792-113792

    • DOI

      10.1016/j.ab.2020.113792

    • Related Report
      2020 Research-status Report
    • Peer Reviewed
  • [Journal Article] Anti-drug antibody formation in Japanese Fabry patients following enzyme replacement therapy2020

    • Author(s)
      Tsukimura Takahiro、Tayama Yuya、Shiga Tomoko、Hirai Kanako、Togawa Tadayasu、Sakuraba Hitoshi
    • Journal Title

      Molecular Genetics and Metabolism Reports

      Volume: 25 Pages: 100650-100650

    • DOI

      10.1016/j.ymgmr.2020.100650

    • Related Report
      2020 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Cell Transplantation Combined with Recombinant Collagen Peptides for the Treatment of Fabry Disease2020

    • Author(s)
      Kami D, Yamanami M, Tsukimura T, Maeda H, Togawa T, Sakuraba H, Gojo S.
    • Journal Title

      Cell Transplant

      Volume: 29 Pages: 963689720976362-963689720976362

    • DOI

      10.1177/0963689720976362

    • Related Report
      2020 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Effectiveness of immunosuppressive therapy for nephrotic syndrome in a patient with late-onset Fabry disease: a case report and literature review.2019

    • Author(s)
      Fujisawa H, Nakayama Y, Nakao S, Yamamoto R, Kurokawa Y, Nakamura N, Nagata A, Tsukimura T, Togawa T, Sakuraba H, Fukami K.
    • Journal Title

      BMC Nephrol

      Volume: 20 Issue: 1 Pages: 469-469

    • DOI

      10.1186/s12882-019-1657-7

    • Related Report
      2019 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Fabry disease in a Japanese population-molecular and biochemical characteristics2018

    • Author(s)
      Sakuraba Hitoshi、Tsukimura Takahiro、Togawa Tadayasu、Tanaka Toshie、Ohtsuka Tomoko、Sato Atsuko、Shiga Tomoko、Saito Seiji、Ohno Kazuki
    • Journal Title

      Molecular Genetics and Metabolism Reports

      Volume: 17 Pages: 73-79

    • DOI

      10.1016/j.ymgmr.2018.10.004

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Presentation] ファブリー病のデータベースの構築と分子病態の解析2021

    • Author(s)
      月村考宏、齋藤静司、兎川忠靖、櫻庭 均
    • Organizer
      第62回日本先天代謝異常学会学術集会
    • Related Report
      2021 Annual Research Report
  • [Presentation] カチオン性両親媒性薬物によるファブリー病モデルマウスの糖脂質代謝への影響2021

    • Author(s)
      齋藤光希、月村考宏、志賀智子、中村 茜、小川泰弘、櫻庭 均、兎川忠靖
    • Organizer
      第62回日本先天代謝異常学会学術集会
    • Related Report
      2021 Annual Research Report
  • [Presentation] ファブリー病患者尿中Gb3の解析におけるTLC免疫染色法とLC-MS/MS法の比較2021

    • Author(s)
      小泉舞奈、志賀智子、月村考宏、兎川忠靖、櫻庭 均
    • Organizer
      第62回日本先天代謝異常学会学術集会
    • Related Report
      2021 Annual Research Report
  • [Presentation] 酵素補充療法を受けたファブリー病1家系のバイオマーカーの解析2021

    • Author(s)
      月村考宏、久保田孝雄、志賀智子、兎川忠靖、櫻庭 均
    • Organizer
      第26回日本ライソゾーム病研究会
    • Related Report
      2021 Annual Research Report
  • [Presentation] Fabry病の一家系の治療経過2020

    • Author(s)
      岡本拓也、島久 登、土井俊夫、月村考宏、兎川忠靖、櫻庭均、池田ゆか、正木千晶、井上朋子、田代学、髙松典通、川原和彦、岡田一義、水口 潤
    • Organizer
      第63回日本腎臓学会総会
    • Related Report
      2020 Research-status Report
  • [Presentation] 不妊治療を目的としたヒト精漿中プロタミンの測定2019

    • Author(s)
      片山昌勅、月村考宏、高松 潔、兼子 智、兎川忠靖
    • Organizer
      第63回日本薬学会関東支部大会
    • Related Report
      2019 Research-status Report
  • [Presentation] ファブリー病女性患者尿中Gb3 の測定2019

    • Author(s)
      生井友里絵、志賀智子、武井加奈子、月村考宏、櫻庭 均、兎川忠靖
    • Organizer
      第61回日本先天代謝異常学会総会
    • Related Report
      2019 Research-status Report
  • [Presentation] 日本人ファブリー病患者に対する酵素補充療法での抗GLA 抗体の産生とそのバイオマーカーへの影響2019

    • Author(s)
      田山裕也、志賀智子、月村考宏、櫻庭 均、兎川忠靖
    • Organizer
      第61回日本先天代謝異常学会総会
    • Related Report
      2019 Research-status Report
  • [Presentation] 改変型NAGA を用いた新規ファブリー病酵素補充療法の開発2019

    • Author(s)
      櫻庭 均、 兎川忠靖、月村考宏、志賀智子、武井加奈子、齋藤静司、川島育夫、田島陽一
    • Organizer
      第61回日本先天代謝異常学会総会
    • Related Report
      2019 Research-status Report
  • [Presentation] 日本人ファブリー病患者の血漿Lyso-Gb3濃度:治療に伴う変化とそれに影響する因子2019

    • Author(s)
      志賀智子、武井加奈子、田山裕也、月村考宏、兎川忠靖、櫻庭 均
    • Organizer
      第24回日本ライソゾーム病研究会
    • Related Report
      2019 Research-status Report
  • [Presentation] 透析離脱可能となったFabry病の合併のあるMyeloma Cast Nephropathyの一例2019

    • Author(s)
      山川裕之、安達京華、徳山博文、橋口明典、脇野 修、佐野元昭、兎川忠靖、櫻庭 均、福田恵一、伊藤 裕
    • Organizer
      第24回日本ライソゾーム病研究会
    • Related Report
      2019 Research-status Report
  • [Presentation] 酵素補充療法中のファブリー病患者における抗GLA 抗体と血漿中Lyso-Gb3 の解析2019

    • Author(s)
      田山 裕也、志賀 智子、月村 考宏、兎川 忠靖、鈴木 雄貴、片山 昌勅、櫻庭 均
    • Organizer
      薬学会第139年会
    • Related Report
      2018 Research-status Report
  • [Presentation] 顕微授精(ICSI)による男性不妊治療への応用を目的とした健常精子選択および精子マーカーとの関連性解析2018

    • Author(s)
      片山 昌勅、月村 考宏、高松 潔、兼子 智、兎川忠靖
    • Organizer
      第62回日本薬学会関東支部大会
    • Related Report
      2018 Research-status Report
  • [Presentation] 酵素補充療法を受けて抗体陽性となったファブリー病患者の抗GLA抗体と血漿中Lyso-Gb3の解析2018

    • Author(s)
      田山 裕也、志賀 智子、月村 考宏、兎川 忠靖、櫻庭 均
    • Organizer
      第60回日本先天代謝異常学会総会/第16回アジア先天代謝異常症シンポジウム
    • Related Report
      2018 Research-status Report
  • [Presentation] 表面プラズモン共鳴法によるリソソーム酵素と万ノース6-リン酸受容体との親和性の解析2018

    • Author(s)
      神嵜 美慶、生井 友里恵、千葉 靖典、片山 昌勅、月村 考宏、兎川 忠靖、櫻庭 均
    • Organizer
      第60回日本先天代謝異常学会総会/第16回アジア先天代謝異常症シンポジウム
    • Related Report
      2018 Research-status Report
  • [Presentation] 日本人ファブリー病患者における分子遺伝学的および生化学的基盤2018

    • Author(s)
      櫻庭 均、月村 考宏、兎川 忠靖、志賀 智子、齋藤 静司、大野 一樹、田中 利絵、佐藤 温子、大塚 智子
    • Organizer
      第60回日本先天代謝異常学会総会/第16回アジア先天代謝異常症シンポジウム
    • Related Report
      2018 Research-status Report

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Published: 2018-04-23   Modified: 2023-01-30  

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