Elucidation of Cellular and Tissue Damage in Moyamoya Disease

2022 Fiscal Year Final Research Report

• Project/Area Number: 20K16113
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 48010:Anatomy-related
• Research Institution: Showa University
• Principal Investigator: Orii Minami 昭和大学, 医学部, 助教 (60792645)
• Project Period (FY): 2020-04-01 – 2023-03-31
• Keywords: もやもや病 / ミステリン / 脂肪滴

Outline of Final Research Achievements

Moyamoya disease (MMD) is a rare cerebrovascular disorder that occurs in all races but mostly in East Asians. Mysterin (also known as RNF213), the causative gene product of moyamoya disease, is a large intracellular protein with AAA+ ATPase activity and ubiquitin ligase activity. Mysterin localizes to lipid droplets and involved in controlling lipid droplets quality and quantity. This function is disrupted by moyamoya disease patient mutations, resulting in characteristic cellular defects.

Free Research Field

細胞生物学

Academic Significance and Societal Importance of the Research Achievements

日中韓の東アジア圏の子どもに多く見られるもやもや病は、原因不明の脳血管疾患であり、深刻な脳虚血・脳梗塞や、それに伴う精神発達遅延などを生じる場合がある。さらに側副血行路として脆い新生毛細血管網が誘導され、これが成人以後の脳出血の原因となる。血管バイパス手術が有効ではあるが、現在までに根治療法は存在せず再発も起こりうる。研究代表者等による培養細胞、並びにマウス個体解析による一連の病態解明、メカニズム解明はもやもや病の根治療法に繋がる研究であり、学術的・社会的意義がある。