Elucidation of the function of transcription factor, IRX1, in erythropoesis

2023 Fiscal Year Final Research Report

• Project/Area Number: 21K07766
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 52050:Embryonic medicine and pediatrics-related
• Research Institution: Hirosaki University
• Principal Investigator: Sato Tomohiko 弘前大学, 医学部附属病院, 助教 (70587005)
• Co-Investigator(Kenkyū-buntansha): 土岐 力 弘前大学, 医学研究科, 講師 (50195731) ; 金崎 里香 弘前大学, 医学研究科, 助教 (60722882)
• Project Period (FY): 2021-04-01 – 2024-03-31
• Keywords: IRX1 / ダウン症候群に伴う骨髄性白血病 / 血球分化 / 腫瘍抑制因子

Outline of Final Research Achievements

IRX1 mutations were found in a large scale genetic analysis of myeloid leukemia-associated with Down syndrome (ML-DS). However, IRX1 was not known to be associated with hematopoietic differentiation or cancer development; therefore, functional analysis of IRX1 was performed in this study.
This study demonstrated that IRX1 is involved in cell proliferation and erythroid/ megakaryocyte differentiation, and that IRX1 acts as a tumor suppressor in ML-DS by suppressing the MYC signaling pathway.

Free Research Field

血液学

Academic Significance and Societal Importance of the Research Achievements

IRX1が血球分化およびがんの発症に関わることを世界で初めて証明した研究であり、血液学や腫瘍学の今後の発展に寄与する可能性がある。
また、IRX1がMYC経路を介して腫瘍抑制効果をもつことが証明できたことから、MYCがML-DSの治療標的となりうることが示され、臨床的意義も大きいと思われる。