Investigation about the molecular mechanism of SBNO2-mediated immunodysregulation

2023 Fiscal Year Final Research Report

• Project/Area Number: 22K20877
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Multi-year Fund
• Review Section: 0902:General internal medicine and related fields
• Research Institution: Chiba University
• Principal Investigator: Kazuyuki Meguro 千葉大学, 医学部附属病院, 助教 (40769626)
• Project Period (FY): 2022-08-31 – 2024-03-31
• Keywords: 免疫異常症 / 免疫不全症 / RNAヘリケース / 免疫学 / 遺伝学

Outline of Final Research Achievements

SBNO2 has a structure that appears to be an ATPase and binds to RNA, suggesting that SBNO2 may bind to targets and regulate thier metabolism as an RNA helicase. Therefore, we first performed an in vitro ATPase assay to determine whether SBNO2 has an ATPase activity. We transfected FLAG-tagged SBNO2 to HEK293T cells including wild type, a patient-derived mutant, and a known helicase dead mutant (K284A). We purified SBNO2 protein and subjected the proteins to in vitro ATPase assay. We found that wild-type SBNO2 has ATP-ase activity. We are comparing the ATP-ase activity between wild type and mutants.These results suggest that SBNO2 has ATPase activity and may be essential for its function.

Free Research Field

遺伝性免疫異常症

Academic Significance and Societal Importance of the Research Achievements

本研究は本研究者らのグループらによって同定された新規遺伝性免疫異常症の原因遺伝子であるSBNO2の活性制御に関して新たな知見を与えるものであり、その学術的意義は大きい。本遺伝子が原因で起こる免疫異常症はその存在がまだ知られおらず、原因不明の遺伝性免疫異常症患者にも本遺伝子欠損患者が含まれている可能性があり、それらの患者の適切な診断、治療に結びつく可能性が高く、社会的意義は大きい。