Responsible genes and molecular pathogenesis of inherited thrombocytopenia with small or normal-sized platelets

2017 Fiscal Year Final Research Report

• Project/Area Number: 26461562
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Tohoku University
• Principal Investigator: SASAHARA Yoji 東北大学, 医学系研究科, 准教授 (60372314)
• Project Period (FY): 2014-04-01 – 2018-03-31
• Keywords: 遺伝子 / シグナル伝達 / 血液学 / トランスレーショナルリサーチ

Outline of Final Research Achievements

Thrombocytopenia in childhood includes inherited thrombocytopenia caused by gene mutations, in addition to non-inherited immune thrombocytopenia. Based on my basic research for Wiskott-Aldrich syndrome, I established rapid mutation analysis system for known responsible genes for inherited thrombocytopenia with small or normal-sized platelets. I also identified novel responsible gene, MECOM gene, for newly identified disease entity in three patients by exome analysis, and reported as an article worldwide. In addition, I reported the results of gene analysis to the doctors and contributed to clinical rapid diagnosis and concise management for patients with inherited thrombocytopenia with small or normal-sized platelets.

Free Research Field

小児科学、小児血液・腫瘍学、原発性免疫不全症