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2014 Fiscal Year Final Research Report

The pathogenesis of acute myeloid leukemia due to the CAP1 gene mutation.

Research Project

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Project/Area Number 24591412
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Hematology
Research InstitutionNippon Medical School

Principal Investigator

YAMAGUCHI Hiroki  日本医科大学, 医学部, 准教授 (90297937)

Project Period (FY) 2012-04-01 – 2015-03-31
KeywordsCAP1 / 急性骨髄性白血病 / 遺伝子変異
Outline of Final Research Achievements

We screened for CAP1 mutations on 200 initial presentation cases and 30 relapsed cases with acute myeloid leukemia (AML). In initial presentation subject samples, mutations were observed in one case (missense mutation), and in relapsed subject samples, mutations were observed in 3 cases (Nonsence mutation 1case, micro-insertion 2cases).We analyzed a function of the CAP1 mutation in vitro. In wild type, localization varied from cytoplasm to mitochondria by apoptotic instruction, but mutant type did not move from cytoplasm. It was found that wild/mutant type(1:1) did not induce the apoptosis that was lower than half as compared with wild type. Also mutant type did not induce the apoptosis that was lower than 1/5 as compared with wild type.

Free Research Field

造血器腫瘍

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Published: 2016-06-03  

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