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Clinical and basic studies of D4ST1-deficient Ehlers-Danlos syndrome, a model of early-onset scoliosis

Research Project

Project/Area Number 16K20044
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Orthopaedic surgery
Research InstitutionShinshu University

Principal Investigator

Uehara Masashi  信州大学, 医学部附属病院, 助教(診療) (30748108)

Project Period (FY) 2016-04-01 – 2020-03-31
Project Status Completed (Fiscal Year 2019)
Budget Amount *help
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2018: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2017: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Keywordsエーラスダンロス症候群 / 脊柱変形 / 後弯症 / デルマタン硫酸 / 臨床
Outline of Final Research Achievements

The characteristics of spinal lesions and features related to cervical spine abnormalities in 12 patients with D4ST1-deficient Ehlers-Danlos syndrome were determined. In addition, observation of bone tissue obtained from patient surgical specimens and bone morphometry showed that bone turnover was reduced.
Taken together, these results suggest that the pathogenesis of progressive spinal deformity in D4ST1-deficient Ehlers-Danlos syndrome may involve (1) reduced bone metabolic rotation without calcification abnormalities and (2) ligament laxity presumed to be caused by connective tissue weakness.

Academic Significance and Societal Importance of the Research Achievements

D4ST1欠損型エーラスダンロス症候群における進行性脊柱変形の特徴及び組織学的評価を進めることができ、病態解明に向けて研究をすすめることができた。
D4ST1欠損型エーラスダンロス症候群患者が進行性脊柱変形によりQOL・ADLを低下を来さないようするために手術加療も有用であることもしめすことができた。

Report

(5 results)
  • 2019 Annual Research Report   Final Research Report ( PDF )
  • 2018 Research-status Report
  • 2017 Research-status Report
  • 2016 Research-status Report
  • Research Products

    (7 results)

All 2018 2017

All Journal Article (1 results) (of which Int'l Joint Research: 1 results,  Peer Reviewed: 1 results,  Open Access: 1 results) Presentation (6 results) (of which Int'l Joint Research: 1 results)

  • [Journal Article] Spinal manifestations in 12 patients with musculocontractural Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiency (mcEDS-CHST14).2018

    • Author(s)
      Uehara M, Kosho T, Yamamoto N, Takahashi HE, Shimakura T, Nakayama J, Kato H, Takahashi J.
    • Journal Title

      Am J Med Genet A.

      Volume: 176 Issue: 11 Pages: 2331-2341

    • DOI

      10.1002/ajmg.a.40507

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Presentation] 上原将志、古庄知己、高橋 淳、倉石修吾、池上章太、二木俊匡、大場悠己、滝沢 崇、加藤博之2018

    • Author(s)
      デルマタン4-O -硫酸基転移酵素1欠損に基づくエーラスダンロス症候群(Musculocontractural EDS-CHST14)の脊椎病変
    • Organizer
      日本脊椎脊髄病学会
    • Related Report
      2018 Research-status Report
  • [Presentation] デルマタン4-O -硫酸基転移酵素1欠損に基づくエーラスダンロス症候群(Musculocontractural EDS-CHST14)の脊椎病変2018

    • Author(s)
      上原将志、古庄知己、高橋 淳、倉石修吾、池上章太、二木俊匡、大場悠己、滝沢 崇、加藤博之
    • Organizer
      日本整形外科学会
    • Related Report
      2018 Research-status Report
  • [Presentation] デルマタン4-O -硫酸基転移酵素1欠損に基づくエーラスダンロス症候群(Musculocontractural EDS-CHST14)における高度後側弯症の1例2018

    • Author(s)
      阿部雪穂、高橋 淳、上原将志、倉石修吾、池上章太、 大場悠己、滝沢 崇、宗像 諒、畠中輝枝、加藤博之、古庄知己
    • Organizer
      中部整形災害外科学会
    • Related Report
      2018 Research-status Report
  • [Presentation] デルマタン4-O-硫酸基転移酵素1(D4ST1)欠損に基づくエーラスダンロス症候群(Musculocontractural EDS-CHST14)の脊椎病変2017

    • Author(s)
      上原将志、古庄知己、高橋 淳、池上章太、倉石修吾、二木俊匡、大場悠己、滝沢崇、加藤博之
    • Organizer
      第51回日本側彎症学会
    • Related Report
      2017 Research-status Report
  • [Presentation] Musculocontractural EDS-CHST14における脊椎病変の包括的検討2017

    • Author(s)
      古庄知己、上原将志、中山 淳、島倉剛俊、高橋榮明、山本智章、加藤博之、高橋 淳
    • Organizer
      日本人類遺伝学会第62回大会
    • Related Report
      2017 Research-status Report
  • [Presentation] Spinal manifestations of patients with musculocontractural Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiency (mcEDS-CHST14).2017

    • Author(s)
      Kosho T, Uehara M, Kato H, Takahashi J.
    • Organizer
      ASHG 2017 Annual Meeting
    • Related Report
      2017 Research-status Report
    • Int'l Joint Research

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Published: 2016-04-21   Modified: 2021-02-19  

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