Elucidating pathogenic mechanisms of Gorham-stout disease

• Project/Area Number: 17K16246
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: Gifu University
• Principal Investigator: Akifumi Nozawa 岐阜大学, 医学部附属病院, 医員 (20772106)
• Project Period (FY): 2017-04-01 – 2019-03-31
• Project Status: Completed (Fiscal Year 2018)
• Budget Amount: ¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000); Fiscal Year 2018: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000); Fiscal Year 2017: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
• Keywords: ゴーハム病 / GSD

Outline of Final Research Achievements

Gorham disease is the extremely rare intractable disease that all unidentified body dissolves in progressively. The purpose of this study "is elucidation of the mechanism that go ham disease causes osteolysis". The applicants thought that "activation of the osteoclast and expression in the microenvironment of the lesion part of cytokine about lymphatic vessel increase" affected the condition of a patient formation. In this study, I make the animal model that reproduced these microenvironment and have greatest goal of getting the elucidation of the outbreak mechanism of gorham disease.
For a biomarker search, I analyzed a marker about blood vessel, lymphatic vessel new life and a marker concerned with bone metabolism with the analysis panel using the multiplex assay system using the plasma of the patient of gorham disease, plasma of the control cyclopedically.

Academic Significance and Societal Importance of the Research Achievements

ゴーハム病の患者の血漿、コントロールの血漿を用いて、血管・リンパ管新生に関わるマーカーおよび、骨代謝に関わるマーカーをマルチプレックスアッセイシステムを用いた解析パネルで網羅的に解析した。
その結果によって、病態、原因に迫ることができた。また病態解明により、GSDの病変を特異的に抑制する治療薬の開発にも繋げられることが可能となる。また将来的には、GSDの難治症例の治癒率やQOL向上、医療費削減などの社会貢献に繋げることができる。