Role of collectin CL-LK in 3MC Syndrome and its molecular basis

2023 Fiscal Year Final Research Report

• Project/Area Number: 18K06947
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 49010:Pathological biochemistry-related
• Research Institution: Asahikawa Medical College
• Principal Investigator: Matsuda Yasuyuki 旭川医科大学, 医学部, 助教 (10532252)
• Project Period (FY): 2018-04-01 – 2024-03-31
• Keywords: コレクチン / 3MC症候群 / 発生 / 自然免疫

Outline of Final Research Achievements

In this study, we analyzed how mutations associated with the genetic disorder 3MC syndrome, which causes severe developmental deficiencies in humans, affect the functions of the causative genes for collectins CL-K1 and CL-L1. Normally, CL-K1 and CL-L1 form a heterocomplex, CL-LK. however, in 3MC syndrome-associated mutants, the formation of the CL-LK complex was impaired. Additionally, it was revealed that the heterocomplex CL-LK interacts with another 3MC syndrome-associated factor, MASP-3.

Free Research Field

分子生物学

Academic Significance and Societal Importance of the Research Achievements

3MC症候群の発症の分子基盤は不明瞭であり、根本的な治療法や予防法の確立には至っていない。本研究の成果は、ヒトの形態形成を考察するうえで重要な知見になると考えられる。これらの知見を基にさらなる研究が進み、本病態の全体像が分子レベルで解明されれば、本疾患に対する将来的な治療法や予防法の開発などにつながると期待される。