Thrombotic phenotypes of two antithrombotic factors, protein S and ADAMTS13

2014 Fiscal Year Final Research Report

• Project/Area Number: 24390250
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Partial Multi-year Fund
• Section: 一般
• Research Field: Hematology
• Research Institution: National Cardiovascular Center Research Institute
• Principal Investigator: MIYATA TOSHIYUKI 独立行政法人国立循環器病研究センター, 研究所, 部長 (90183970)
• Co-Investigator(Kenkyū-buntansha): KOKAME Koichi 独立行政法人国立循環器病研究センター, 研究所, 室長 (40270730) ; AKIYAMA Masashi 独立行政法人国立循環器病研究センター, 研究所, 室長 (30298179) ; BANNO Fumiaki 独立行政法人国立循環器病研究センター, 研究所, 研究員 (00373514)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: 静脈血栓症 / 凝固制御因子 / ADAMTS13 / 血栓性血小板減少性紫斑病 / フォンビルブランド因子 / プロテインS

Outline of Final Research Achievements

We generated monoclonal antibodies to the protein S K196E mutant and developed a simple and reliable method for the identification of protein S K196E carriers. The novel method allowed identifying mutation carriers even under warfarin treatment or pregnancy. We found that ADAMTS13 deficiency promoted venous thrombus formation induced by the electrolytic stimulation in mouse model. We have performed the candidate gene analysis (C3, CFH, CFB, CFI, MCP, and THBD) in 46 patients with atypical hemolytic uremic syndrome, aHUS. We identified C3 I1157T mutation in multiple aHUS families who are mainly localized in the Kansai area.

Free Research Field

血栓止血学