| Project/Area Number |
19K18532
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| Research Category |
Grant-in-Aid for Early-Career Scientists
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| Allocation Type | Multi-year Fund |
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| Review Section |
Basic Section 56020:Orthopedics-related
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| Research Institution | Shinshu University |
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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)
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| Project Period (FY) |
2019-04-01 – 2024-03-31
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| Project Status |
Completed (Fiscal Year 2023)
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| Budget Amount *help |
¥3,510,000 (Direct Cost: ¥2,700,000、Indirect Cost: ¥810,000)
Fiscal Year 2021: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2020: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2019: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
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| Keywords | エーラス・ダンロス症候群 / 脊柱変形 / エーラスダンロス症候群 / 病理所見 / 脊椎後弯 / 骨粗鬆症 |
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| Outline of Research at the Start |
エーラス・ダンロス症候群（Ehlers-Danlos Syndrome；EDS）は、皮膚・関節の過伸展性、各種組織の脆弱性を特徴とする遺伝性結合組織疾患であり、臨床症状と分子遺伝学的背景から、13病型に分類されている。脊柱変形は、後側彎型、筋拘縮型などを中心に頻度が高く、患者のQOL/ADLに関わる重要な合併症であるが、その全貌は明らかになっていない。本研究は、様々なEDS病型における脊椎病変の特徴、自然歴、その発症メカニズムを明らかにすることを目的としている。
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| 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-/-.
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| 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。
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