What causes overgrowth and scoliosis in Marfan syndrome?

2016 Fiscal Year Final Research Report

• Project/Area Number: 26462229
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Orthopaedic surgery
• Research Institution: The University of Tokyo
• Principal Investigator: Taniguchi Yuki 東京大学, 医学部附属病院, 助教 (80722165)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 椎間板変性 / 椎間板変性モデル / FBN1 / マルファン症候群

Outline of Final Research Achievements

In this study, we succeeded in establishing the novel mouse intervertebral disc degeneration model by surgically resecting lumbar facet joint, although we were not able to satisfactorily analyze the spine and intervertebral disc of the conditional FBN1 knockout mice because of delayed crossbleeding. By utilizing our novel mouse disc degeneration model and laser micro-digestion instrument, we analyzed the expression change of the FBN1 gene during the disc degeneration process and found the possible critical role of the FBN1 for the homeostasis in annulus fibrosus of the intervertebral disc. Also by utilizing the same model, we identified novel gene “X” which interacts with FBN1 in annulus fibrosus and promotes microfibril biogenesis in vitro. Now we are investigating the physiological functions of this new gene “X”, and exploring the possibility of this new gene as a novel drug for the disc degeneration.

Free Research Field

脊椎外科