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Summary of our research
A collaborative research team from Mie University, Osaka University, Keio University, the National Cerebral and Cardiovascular Center, and Kanagawa Children's Medical Center has shown that in refractory vascular malformations driven by the PIK3CA (H1047R) mutation, the lesion site is determined by the embryonic cellular origin. They also discovered that hypoxia signaling is abnormally activated even under normoxic conditions, playing a crucial role in pathogenesis. Using single-cell RNA sequencing and molecular analyses in a mouse model, the researchers observed stabilization of HIF-1α and excessive production of angiogenic factors such as VEGF-A. Furthermore, targeted inhibition of these molecules significantly suppressed the formation of vascular malformations. These findings are expected to substantially enhance our understanding of vascular malformations and pave the way for novel therapeutic strategies. The study was published in EMBO Molecular Medicine in April 16, 2025, 9:00 a.m. Japan time.
Researcher information
Kazuaki MARUYAMA
Graduate School of Medicine, Department of Regenerative Pathology, Assistant Professor
Areas of Expertise：
Cardiovascular pathology, molecular biology, developmental biology, vascular biology, lymphatic vessel biology
Current Research Topic：
・Elucidation of the pathogenesis of vascular and lymphatic diseases
・Investigations into the interactions among lymphatic/blood vessels, cancer, and the immune system
Kyoko IMANAKA-YOSHIDA
Position at the Time of Research：
Department of Regenerative Pathology, Graduate School of Medicine, Professor
Current Position：
Department of Cardiology and Nephrology, Graduate School of Medicine, Specially Appointed Professor
Areas of Expertise：
Cardiovascular pathology, extracellular matrix
Current Research Topic：
・Elucidation of the pathogenesis of myocarditis