Elucidation of the pathophysiology and treatment of spinal lesions in Ehlers-Danlos syndrome

2023 Fiscal Year Final Research Report

• Project/Area Number: 19K18532
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 56020:Orthopedics-related
• Research Institution: Shinshu University
• Principal Investigator: Uehara Masashi 信州大学, 学術研究院医学系(医学部附属病院), 講師 (30748108)
• Project Period (FY): 2019-04-01 – 2024-03-31
• Keywords: エーラス・ダンロス症候群 / 脊柱変形

Outline of Final Research Achievements

We conducted a clinical study on patients diagnosed with muscle contracture Ehlers-Danlos syndrome (mcEDS) at our hospital and a basic study on model mice (Chst14-/-).
For the clinical study, the degree of spinal deformity was investigated by spine X-ray. As a result, scoliosis was observed in 8 cases and posterior thoracolumbar kyphosis in 7 cases.
As a basic study, the spines of 1-year-old mice (Chst14-/-: 13 mice, Chst14+/+: 15 mice) were examined histologically. Spinal deformities were significantly more common in Chst 14-/- (p=0.044). Intervertebral disc changes were significantly more common in Chst 14-/-. Bone-to-bone ratio was significantly smaller in Chst 14-/-.

Free Research Field

整形外科

Academic Significance and Societal Importance of the Research Achievements

脊柱維持にデルマタン硫酸が重要であり、椎間板や骨梁の異常が病態に関わることが示唆された。