Comprehensive analysis of gene expression in congenital scoliosis

2018 Fiscal Year Final Research Report

• Project/Area Number: 16K10809
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Orthopaedic surgery
• Research Institution: Gunma University
• Principal Investigator: IIZUKA HAKU 群馬大学, 大学院医学系研究科, 研究員 (90334119)
• Co-Investigator(Kenkyū-buntansha): 下川 哲昭 高崎健康福祉大学, 健康福祉学部, 教授 (90235680)
• Project Period (FY): 2016-04-01 – 2019-03-31
• Keywords: 先天性脊柱側弯症 / Ishibashi rat / 疾患関連遺伝子

Outline of Final Research Achievements

Although congenital scoliosis is defined as a genetic disease characterized by a congenital and abnormal curvature of the spinal vertebrae, our knowledge of the genetic underpinnings of the disease is insufficient. Surgery is the only radical treatment, but often causes complications such as paralysis or infection. The functional prognosis depends on whether or not the operation is performed before the progression of the deformity. Thus, an early diagnosis is extremely important. To detect the disease early in its course and prevent progression, it is necessary to detect the genes associated with congenital scoliosis. In previous animal study of congenital kyphoscoliosis model rat, we identified Hox and Trk as gene candidate associated with congenital scoliosis. In this study, we also identified Adh1, Aldh1a2, Rarα as candidate genes, and miR-182 may be associated with kyphoscoliotic deformity progression.

Free Research Field

整形外科

Academic Significance and Societal Importance of the Research Achievements

先天性脊柱後側弯症モデル動物であるIshibashi ratの遺伝子発現解析の報告は本申請者らのグループによる報告が最初であり、本研究結果を元に解析を進めることで先天性脊柱側弯症の疾患関連遺伝子や発症メカニズムなどの病態が解明されれば、疾患の早期診断や進行の予防、治療成績の向上が期待出来ると考えられる。