1998 Fiscal Year Final Research Report Summary
Molecular Genetic Studies on Protein C Pathway Abnormality
| Project/Area Number |
09044286
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| Research Category |
Grant-in-Aid for international Scientific Research
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| Allocation Type | Single-year Grants |
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| Section | Joint Research |
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| Research Field |
Laboratory medicine
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| Research Institution | Mie University |
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Principal Investigator |
SUZUKI Koji Mie University, Faculty of Medicine, Professor, 医学部, 教授 (70077808)
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| Co-Investigator(Kenkyū-buntansha) |
DAHLBACK Bjorn Lund University, Faculty of Medicine, Professor, 医学部, 教授
HAYASHI Tatsuya Mie University, Faculty of Medicine, Assistant Professor, 医学部, 助手 (00242959)
IDO Masaru Mie University, Faculty of Medicine, Lecturer, 医学部, 講師 (90167263)
STENFLO Johan Lund University, Faculty of Medicine, Professor, 医学部, 教授
TAKEYA Hiroyuki Mie University, Faculty of Medicine, Assistant Professor (60222105)
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| Project Period (FY) |
1997 – 1998
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| Keywords | Hereditary thrombophilia / Protein C deficiency / Protein S deficiency / APC resistance / Thrombomodulin deficiency / Protein C receptor deficiency / Protein C pathway / Abnormality in the natural anticoagulant systems |
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| Research Abstract |
To understand the difference of incidence of thrombotic disease between the human races, it may be crucial to study the genetic background of the molecules in the anticoagulant systems. Here we analyzed several molecules in the anticoagulant Protein C Pathway under the joint-study with Drs. Johan Stenflo and Bjorn Dahlback in the Lund University, Sweden. In which, we have analyzed the gene structures of protein C, protein S, factor V and thrombomodulin, which are known as candidates of the hereditary thrombophilia. We also determined whole structure of human endothelial protein C receptor 'EPCR) gene and analyzed the gene structure of patients who had thrombotic disease, in order to clarify whether the EPCR deficiency is a risk factor of thrombophilia. We could find several new or already reported mutations in protein C or Protein S gene in the patients with protein C or Protein S deficiency. However, we could not detected the same mutation in factor V gene in Japanese patients with APC resistance as observed commonly in the patients with APC resistance in European countries. Moreover, we could not find any abnormality in the genes of thrombomodulin and EPCR in the Japanese patients with hereditary thrombophilia. Thus, the risk factors for hereditary thrombophilia in Asian population may be genetically different from that of Caucasian population.
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