Identification of disease gene and pathologic analysis of congental thrombocytopenia

Research Project

Project/Area Number	26860805
Research Category	Grant-in-Aid for Young Scientists (B)
Allocation Type	Multi-year Fund
Research Field	Pediatrics
Research Institution	Hiroshima University
Principal Investigator	Kobayashi Yoshiyuki 広島大学, 大学病院, 医科診療医 (20723290)
Project Period (FY)	2014-04-01 – 2016-03-31
Project Status	Completed (Fiscal Year 2015)
Budget Amount *help	¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000) Fiscal Year 2015: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000) Fiscal Year 2014: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Keywords	血小板減少症 / インテグリンシグナル / 恒常的活性化状態 / 先天性血小板減少症
Outline of Final Research Achievements	We tried to identificate new candidate gene of thrombocytopenia, but we could not identificate disease gene in our study cases. We also performed functional analysis of integrin outside-in signal to elcidate the mechanism of thrombocytopenia and platelet dysfunction. As the mechanism of them, the relevance of inactivation of RhoA signaling has been suggested, but the involvement of other signaling pathways could not be proven. Further investigetions are necessary to elcidate the mechanism and obtain the beneficial outcome in the treatment and management of patients.