Keio University · Medicine
Professor Masatoshi Sakurai's research lab focuses on the molecular mechanisms underlying hematopoietic stem cell regulation and inherited blood disorders, particularly familial platelet disorder/acute myeloid leukemia (FPD/AML). The lab investigates the pathogenic roles of RUNX1 mutations and chromosomal abnormalities in hematopoietic stem cell dysfunction and leukemogenesis. Using genetic and molecular approaches, the lab explores the functional consequences of RUNX1 mutations and the potential of umbilical cord blood as a therapeutic resource in hematopoietic stem cell transplantation. Their work bridges basic genetics with clinical applications in hematology and regenerative medicine.
Figures are computed from collected data and may differ slightly.
Familial platelet disorder/acute myeloid leukemia (FPD/AML) is an autosomal dominant inherited disorder characterized by thrombocytopenia and high propensity to various hematological malignancies. FPD/AML is caused by monoallelic mutations of RUNX1, which are in many cases point mutations disrupting DNA-binding or transactivating capacities of RUNX1, and these mutations are considered to act in dominant-negative manner to various degrees for residual wild-type allele. 1,2 Interestingly, some FPD
Hematopoietic stem cells (HSCs) are a rare population of cells found in the bone marrow that play a critical role in lifelong hematopoiesis and the reconstitution of the hematopoietic system after hematopoietic stem cell transplantation. Hematopoietic stem cell transplantation remains the only curative treatment for patients with refractory hematologic disorders, and umbilical cord blood (CB) serves as an alternative stem cell source due to its several advantageous characteristics, including hum
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