Identification and functional analysis of novel causative gene responsible for congenital thrombocytopenia

2016 Fiscal Year Final Research Report

• Project/Area Number: 26461405
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Hematology
• Research Institution: Ehime University
• Principal Investigator: HATO TAKAAKI 愛媛大学, 医学部附属病院, 准教授 (30172943)
• Co-Investigator(Renkei-kenkyūsha): Yasukawa Masaki 愛媛大学, 大学院医学研究科, 教授 (60127917)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 血小板減少症 / 血栓性素因 / 動脈血栓症 / 静脈血栓症 / 血小板凝集

Outline of Final Research Achievements

We found a large family with congenital thrombocytopenia and arteriovenous thrombosis. As a consequence of genetic analysis, we could identify mutation of a G protein-coupled receptor, GPR25. Transgenic mice bearing this mutation showed thrombocytopenia in some mice, but not in others, suggesting inconclusive evidence. We successfully generated anti-GPR25 monoclonal antibody and our antibody experiments confirmed the expression of the GPR25 protein on the platelet surface. Moreover, functional analysis revealed that patient’s platelets had enhanced platelet aggregation and formed firm aggregates in agonist-induced platelet aggregation.

Free Research Field

血栓止血学