Elucidation of molecular mechanism of leukemogenesis with GATA1 and cohesin gene mutations

2016 Fiscal Year Final Research Report

• Project/Area Number: 26461559
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Hirosaki University
• Principal Investigator: KANEZAKI RIKA 弘前大学, 医学研究科, 助教 (60722882)
• Co-Investigator(Renkei-kenkyūsha): ITO Etsuro 弘前大学, 大学院医学研究科, 教授 (20168339) ; TOKI Tsutomu 弘前大学, 大学院医学研究科, 講師 (50195731)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 白血病 / 転写因子

Outline of Final Research Achievements

It is known that children with Down syndrome are at about 10-20 times higher risk of leukemia than healthy children. About 10% of newborns with Down Syndrome develop a blood disease (TAM) in which immature megakaryocytes transiently proliferate, and about 20% of them progresses to megakaryocytic leukemia (ML-DS). The purpose of this study is to clarify the molecular mechanism for deveplopment of ML-DS.
In almost of all TAM and ML-DS, mutations of the megakaryocytic transcription factor GATA1 are detected. In this study, we revealed that GATA1 mutations affected the expression control of KIT gene which supports cell survival and proliferation. And, about the reserch of cohesin complex whose gene mutations are detected with high frequency in ML-DS, we are now investigating the effect on regulation of gene expression.

Free Research Field

小児血液学