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

2019 Fiscal Year Final Research Report

• Project/Area Number: 16K20044
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Orthopaedic surgery
• Research Institution: Shinshu 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
• Keywords: エーラスダンロス症候群 / 脊柱変形

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.

Free Research Field

整形外科

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。