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Development of a new biomarker of GM2 gangliosidosis

Research Project

Project/Area Number 23659527
Research Category

Grant-in-Aid for Challenging Exploratory Research

Allocation TypeMulti-year Fund
Research Field Pediatrics
Research InstitutionMeiji Pharmaceutical University

Principal Investigator

SAKURABA Hitoshi  明治薬科大学, 薬学部, 教授 (60114493)

Project Period (FY) 2011 – 2013
Project Status Completed (Fiscal Year 2013)
Budget Amount *help
¥3,510,000 (Direct Cost: ¥2,700,000、Indirect Cost: ¥810,000)
Fiscal Year 2013: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2012: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2011: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
KeywordsGM2ガングリオシドーシス / テイ-サックス病 / ザンドホッフ病 / GM2ガングリオシド / リゾ-GM2ガングリオシド / バイオマーカー / 1. GM2ガングリオシドーシス / 2. テイ-サックス病 / 3. ザンドホッフ病 / 4. GM2 ガングリオシド / 5. リゾGM2ガングリオシド / 6. バイオマーカー / テイ-サックス病 / リゾ-GM2ガングリオシド
Research Abstract

To develop a new biomarker of GM2 gangliosidosis, we focused attention on lyso-GM2 ganglioside (lyso-GM2). We measured the lyso-GM2 levels in the brain and plasma of Sandhoff mice by means of high performance liquid chromatography, and examined the effects of a modified hexosaminidase B (HexB) exhibiting hexosaminidase A (HexA)-like activity. Then, the lyso-GM2 concentrations in plasma from patients with Tay-Sachs disease and Sandhoff disease were determined. The lyso-GM2 levels in the brain and plasma in Sandhoff mice were apparently increased compared with those in wild-type mice, and they decreased on intraventricular administration of the modified HexB. The plasma lyso-GM2 levels in the patients with Tay-Sachs disease and Sandhoff disease were increased, and their increase in lyso-GM2 was associated with a decrease in HexA activity. Considering the results, lyso-GM2 is thought to be a potential biomarker of GM2 gangliosidosis.

Report

(4 results)
  • 2013 Annual Research Report   Final Research Report ( PDF )
  • 2012 Research-status Report
  • 2011 Research-status Report
  • Research Products

    (50 results)

All 2014 2013 2012 2011 Other

All Journal Article (12 results) (of which Peer Reviewed: 12 results) Presentation (26 results) (of which Invited: 4 results) Book (11 results) Remarks (1 results)

  • [Journal Article] Comparative study on mannose 6-phosphate residue contents of recombinant lysosomal enzymes2014

    • Author(s)
      Togawa T, Takada M, Aizawa Y, Tsukimura T, Chiba Y, Sakuraba H
    • Journal Title

      Mol Genet Metab

      Volume: 111 Pages: 369-373

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Structural and clinical implications of amino acid substitutions in α-L-iduronidase : insight into the basis of mucopolysaccharidosis type I2014

    • Author(s)
      Saito S, Ohno K, Maita N, Sakuraba H
    • Journal Title

      Mol Genet Metab

      Volume: 111 Pages: 107-112

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Structural and clinical implications of amino acid substitutions in α-L-iduronidase: Insight into the basis of mucopolysaccharidosis type I2014

    • Author(s)
      Seiji Saito, Kazuki Ohno, Nobuo Maita, Hitoshi Sakuraba
    • Journal Title

      Molecular Genetics and Metabolism

      Volume: 111 Issue: 2 Pages: 107-112

    • DOI

      10.1016/j.ymgme.2013.10.005

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Comparative study on mannose 6-phosphate residue contents of recombinant lysosomal enzymes.2014

    • Author(s)
      Togawa T., Takada M., Aizawa Y., Tsukimura T., Chiba Y., Sakuraba H.
    • Journal Title

      Mol. Genet. Metab.

      Volume: 111 Issue: 3 Pages: 369-373

    • DOI

      10.1016/j.ymgme.2013.12.296

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.2013

    • Author(s)
      Saito S., Ohno K., Sakuraba H.
    • Journal Title

      PLoS ONE

      Volume: 8 Issue: 12 Pages: e84267-e84267

    • DOI

      10.1371/journal.pone.0084267

    • Related Report
      2013 Annual Research Report 2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Development of a highly sensitive immuno-PCR assay for the measurement of alpha-galactosidase A protein levels in serum and plasma2013

    • Author(s)
      Nakano, S. Morizane, Y. Makisaka, N. Suzuki, T. Togawa, T. Tsukimura, T. Kawashima, I. Sakuraba, H. Shibasaki, F.
    • Journal Title

      PLoS One

      Volume: 8 Issue: 11 Pages: e78588-e78588

    • DOI

      10.1371/journal.pone.0078588

    • Related Report
      2013 Annual Research Report 2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Human α-L-iduronidase uses its own N-glycan as a substrate-binding and catalytic module2013

    • Author(s)
      Maita N, Tsukimura T, Taniguchi T, Saito S, Ohno K, Taniguchi H, Sakuraba H
    • Journal Title

      Proc. Natl. Acad. Sci. USA.

      Volume: 110 Issue: 36 Pages: 14628-14633

    • DOI

      10.1073/pnas.1306939110

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] High-throughput screening identified disease-causing mutants and functional variants of α-galactosidase A gene in Japanese male hemodialysis patients2012

    • Author(s)
      Doi K, Noiri E, Ishizu T, Negishi K, Suzuki Y, Hamasaki Y, Honda K, Fujita T, Tsukimura T, Togawa T, Saito S, Sakuraba H
    • Journal Title

      J Hum Genet

      Volume: 57 Pages: 575-579

    • NAID

      10031056926

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Database of the clinical phenotypes, genotypes and mutant arylsulfatase B structures in mucopolysaccharidosis type VI2012

    • Author(s)
      Saito S, Ohno K, Sekijima M, Suzuki T, Sakuraba H
    • Journal Title

      J Hum Genet

      Volume: 57 Pages: 280-282

    • NAID

      10030662932

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Database of the clinical phenotypes, genotypes, and mutant arylsulfatase B structures in mucopolysaccharidosis type VI2012

    • Author(s)
      Saito S, et al
    • Journal Title

      J.Hum.Genet.

      Volume: 57 Issue: 4 Pages: 280-282

    • DOI

      10.1038/jhg.2012.6

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] High-throughput screening identified disease-causing mutants and functional variants of α-galactosidase A gene in Japanese male hemodialysis patients.2012

    • Author(s)
      Doi K., et al.
    • Journal Title

      J. Hum. Genet.,

      Volume: 57 Issue: 9 Pages: 575-579

    • DOI

      10.1038/jhg.2012.68

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Lyso-GM2 ganglioside : a possible biomarker of Tay-Sachs disease and Sandhoff disease2011

    • Author(s)
      Kodama T, Togawa T, Tsukimura T, Kawashima I, Matsuoka K, Kitakaze K, Tsuji D, Itoh K, Ishida Y, Suzuki M, Suzuki T, Sakuraba H
    • Journal Title

      PLoS One

      Volume: 6 Issue: 12 Pages: e29074-e29074

    • DOI

      10.1371/journal.pone.0029074

    • Related Report
      2013 Final Research Report 2011 Research-status Report
    • Peer Reviewed
  • [Presentation] 早期診断・早期治療が必要な先天代謝異常症 ファブリー病2014

    • Author(s)
      櫻庭 均
    • Organizer
      角膜カンファランス 2014 第38回日本角膜学会総会 第30回日本角膜移植学会
    • Place of Presentation
      沖縄
    • Year and Date
      2014-01-31
    • Related Report
      2013 Final Research Report
  • [Presentation] Molecular interaction between a mutant α-galactosidase A and imino sugars2014

    • Author(s)
      Tsukimura T, Togawa T, Sakuraba H
    • Organizer
      10th Annual WORLD Symposium^<TM> 2014
    • Place of Presentation
      San Diego, California, USA
    • Related Report
      2013 Final Research Report
  • [Presentation] Replacement effects of human modified lysosomal β-hexosaminidase B on Tay-Sachs disease and Sandhoff disease models and imaging with novel pH-activatable fluorescent probes2014

    • Author(s)
      Kitakaze K, Asanuma D, Kamiya M, Tsuji D, Ikuo M, Urano Y, Sakuraba H, Ito K
    • Organizer
      10th Annual WORLD Symposium^<TM> 2014
    • Place of Presentation
      San Diego, California, USA
    • Related Report
      2013 Final Research Report
  • [Presentation] Genotype/phenotype correlation in Fabry disease2013

    • Author(s)
      Sakuraba H
    • Organizer
      The 15th Annual Asia LSD Symposium
    • Place of Presentation
      Chiba, Japan
    • Year and Date
      2013-11-26
    • Related Report
      2013 Final Research Report
  • [Presentation] 治療可能な希少疾病ファブリー病~酵素補充療法の実際~2013

    • Author(s)
      櫻庭 均
    • Organizer
      第40回日本小児臨床薬理学会 学術集会
    • Place of Presentation
      横浜
    • Year and Date
      2013-11-02
    • Related Report
      2013 Final Research Report
  • [Presentation] よくわかるシリーズ ファブリー病 : ファブリー病の診断法2013

    • Author(s)
      櫻庭 均
    • Organizer
      第58回日本透析医学会 学術集会・総会
    • Place of Presentation
      福岡
    • Related Report
      2013 Final Research Report
  • [Presentation] High Risk Screening for Fabry Disease2013

    • Author(s)
      Sakuraba H
    • Organizer
      Asian Congress for Lysosomal Storage Disease Screening
    • Place of Presentation
      Kumamoto, Japan
    • Related Report
      2013 Final Research Report
  • [Presentation] ファブリー病の診断法2013

    • Author(s)
      櫻庭 均
    • Organizer
      第58回日本透析医学会 学術集会・総会
    • Place of Presentation
      福岡
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Presentation] 酵素/低分子化合物複合体形成機構の熱力学的・構造学的検討2012

    • Author(s)
      櫻庭 均
    • Organizer
      第1回日本シャペロン療法研究会, 遺伝性難病の治療を目指して
    • Place of Presentation
      東京
    • Year and Date
      2012-11-11
    • Related Report
      2013 Final Research Report
  • [Presentation] ファブリー病の分子病態と腎障害2012

    • Author(s)
      櫻庭 均
    • Organizer
      第47回日本小児腎臓病学会学術集会
    • Place of Presentation
      東京
    • Year and Date
      2012-06-29
    • Related Report
      2013 Final Research Report
  • [Presentation] 分子設計に基づくファブリー病新規治療戦略2012

    • Author(s)
      櫻庭 均
    • Organizer
      第57回(社)日本透析医学会 学術集会・総会
    • Place of Presentation
      札幌
    • Year and Date
      2012-06-23
    • Related Report
      2013 Final Research Report
  • [Presentation] 蛋白尿に潜む疾患 ファブリー病2012

    • Author(s)
      櫻庭 均
    • Organizer
      第55回日本腎臓学会学術総会
    • Place of Presentation
      横浜
    • Year and Date
      2012-06-01
    • Related Report
      2013 Final Research Report
  • [Presentation] 神経内科医が遭遇する疾患ファブリー病2012

    • Author(s)
      櫻庭 均
    • Organizer
      第53回日本神経学会学術大会
    • Place of Presentation
      東京
    • Year and Date
      2012-05-24
    • Related Report
      2013 Final Research Report
  • [Presentation] Construction of a database and development of new enzyme replacement therapy for Fabry disease2012

    • Author(s)
      Sakuraba H
    • Organizer
      The 3rd Medicinal Chemistry Seminar (2012) of JSPS Asia-Africa Science Platform Program
    • Place of Presentation
      Tokyo, Japan
    • Related Report
      2013 Final Research Report
  • [Presentation] Lyso-glycosphingolipids as biomarkers of sphingolipidoses.2012

    • Author(s)
      Sakuraba H.
    • Organizer
      4th International Forum for Lysosomal Storage
    • Place of Presentation
      Tokyo, Japan.
    • Related Report
      2012 Research-status Report
    • Invited
  • [Presentation] New method for determination of globotriaosylceramide in plasma and urine from Fabry patients.2012

    • Author(s)
      Takasawa K., et al.
    • Organizer
      The 3rd Medicinal Chemistry Seminar (2012) of JSPS Asia-Africa Science Platform Program
    • Place of Presentation
      Tokyo, Japan.
    • Related Report
      2012 Research-status Report
  • [Presentation] Fabry 病の診断と治療2011

    • Author(s)
      櫻庭 均
    • Organizer
      第37回皮膚かたち研究会
    • Place of Presentation
      東京
    • Year and Date
      2011-07-22
    • Related Report
      2013 Final Research Report
  • [Presentation] ファブリー病の診断治療戦略-最新のスクリーニング結果報告2011

    • Author(s)
      櫻庭 均
    • Organizer
      第55回日本腎臓学会学術総会
    • Place of Presentation
      横浜
    • Year and Date
      2011-06-16
    • Related Report
      2013 Final Research Report
  • [Presentation] Lyso-GM2 : GM2 ガングリオシドーシスのバイオマーカー2011

    • Author(s)
      児玉 敬、 兎川 忠靖、 川島 育夫、石田 洋一、 鈴木 實、 辻 大輔、 伊藤 孝司、 月村 考宏、 鈴木 俊宏、櫻庭 均
    • Organizer
      第53回日本先天代謝異常学会総会, 第10回アジア先天代謝異常症シンポジウム
    • Place of Presentation
      千葉
    • Related Report
      2013 Final Research Report
  • [Presentation] Lyso-GM2 ganglioside : A new biomarker of Tay-Sachs disease and Sandhoff disease2011

    • Author(s)
      Kodama T, Togawa T, Tsukimura T, Kawashima I, Ishida Y, Suzuki T, Sakuraba H
    • Organizer
      The Second Medicinal Chemistry Seminar of JSPS Asia-Africa Science Platform Program
    • Place of Presentation
      New Delhi, India
    • Related Report
      2013 Final Research Report
  • [Presentation] Development of new enzyme replacement therapy for Fabry disease based on molecular designing2011

    • Author(s)
      Sakuraba H
    • Organizer
      The 31st Naito Conference, Glycan Expression and Regulation [II] : Metabolites, Stress Response, Microdomains, and Beyond
    • Place of Presentation
      Sapporo, Japan
    • Related Report
      2013 Final Research Report
  • [Presentation] New treatment of Fabry disease. Asian Congress for Inherited Metabolic Diseases (ACIMD)2011

    • Author(s)
      Sakuraba H
    • Organizer
      Satellite Symposium 2011 Tokyo Meeting on Lysosomal Storage Disease Screening
    • Place of Presentation
      Tokyo, Japan
    • Related Report
      2013 Final Research Report
  • [Presentation] High-risk screening, database and biomarkers of Fabry disease2011

    • Author(s)
      Sakuraba H
    • Organizer
      The 13th Annual Asia LSD Symposium
    • Place of Presentation
      Hong Kong, China
    • Related Report
      2013 Final Research Report
  • [Presentation] Lyso-GM2: GM2 ガングリオシドーシスのバイオマーカー2011

    • Author(s)
      児玉 敬、兎川 忠靖、川島 育夫、石田 洋一、鈴木 實、辻 大輔、伊藤 孝司、月村 考宏、鈴木 俊宏、櫻庭 均
    • Organizer
      第53回日本先天代謝異常学会総会
    • Place of Presentation
      千葉
    • Related Report
      2011 Research-status Report
  • [Presentation] 治療可能な希少疾病ファブリー病~酵素補充療法の実際~

    • Author(s)
      櫻庭 均
    • Organizer
      第40回 日本小児臨床薬理学会 学術集会
    • Place of Presentation
      横浜
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Presentation] 早期診断・早期治療が必要な先天代謝異常症 ファブリー病

    • Author(s)
      櫻庭 均
    • Organizer
      第30回日本角膜移植学会
    • Place of Presentation
      沖縄
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Book] アスパルチルグルコサミン尿症. 先天代謝異常ハンドブック2013

    • Author(s)
      櫻庭 均
    • Publisher
      中山書店
    • Related Report
      2013 Final Research Report
  • [Book] Canavan 病. 先天代謝異常ハンドブック2013

    • Author(s)
      櫻庭 均
    • Publisher
      中山書店
    • Related Report
      2013 Final Research Report
  • [Book] 酵素(2)リソソーム酵素. DOJIN BIOSCIENCE SERIES 08 バイオ医薬品 開発の基礎から次世代医薬品まで2013

    • Author(s)
      櫻庭 均
    • Publisher
      化学同人
    • Related Report
      2013 Final Research Report
  • [Book] DOJIN BIOSCIENCE SERIES 08バイオ医薬品 開発の基礎から次世代医薬品まで2013

    • Author(s)
      櫻庭 均
    • Publisher
      化学同人(京都)
    • Related Report
      2013 Annual Research Report
  • [Book] 先天代謝異常ハンドブック2013

    • Author(s)
      櫻庭 均
    • Publisher
      中山書店(東京)
    • Related Report
      2013 Annual Research Report
  • [Book] 分子生物学的病態生理学. ファブリー病Up Date2012

    • Author(s)
      櫻庭 均
    • Publisher
      診断と治療社
    • Related Report
      2013 Final Research Report
  • [Book] 病態生理学.ファブリー病Up Date2012

    • Author(s)
      櫻庭 均
    • Publisher
      診断と治療社
    • Related Report
      2013 Final Research Report
  • [Book] ゴーシェ病. 今日の小児治療指針、 第15版2012

    • Author(s)
      櫻庭 均
    • Total Pages
      211
    • Publisher
      医学書院
    • Related Report
      2013 Final Research Report
  • [Book] ライソゾーム酵素の立体構造とライソゾーム病. ライソゾーム病-病態・診断の最近の進歩2011

    • Author(s)
      櫻庭 均
    • Publisher
      診断と治療社
    • Related Report
      2013 Final Research Report
  • [Book] ライソゾームの糖脂質代謝. ライソゾーム病-病態・診断の最近の進歩2011

    • Author(s)
      櫻庭 均
    • Publisher
      診断と治療社
    • Related Report
      2013 Final Research Report
  • [Book] ライソゾーム酵素の立体構造とライソゾーム病. ライソゾーム病-病態・診断の最近の進歩 (監修 衛藤義勝)2011

    • Author(s)
      櫻庭 均
    • Publisher
      診断と治療社(東京)
    • Related Report
      2011 Research-status Report
  • [Remarks]

    • URL

      http://fabry-database.org/http://mps6-database.org/

    • Related Report
      2013 Final Research Report

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Published: 2011-08-05   Modified: 2019-07-29  

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