2017 Fiscal Year Final Research Report
The role of RUNX1 in platelet production and function
| Project/Area Number |
24790979
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Hematology
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| Research Institution | University of Miyazaki |
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Principal Investigator |
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| Project Period (FY) |
2012-04-01 – 2018-03-31
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| Keywords | 家族性血小板減少症 / RUNX1 |
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| Outline of Final Research Achievements |
Familial platelet disorder with propensity to myeloid malignancy (FPD/MM) is an autosomal dominant disorder characterized by quantitative and functional platelet abnormalities and propensity to develop myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). Causal mutations have been identified in the RUNX1 gene. In this research, the genetic analysis was performed to identify the cause of FPD/MM.
The Sequencing analysis of the exons 1-8 of Runx1 gene revealed no mutations. The microsatellite analysis using seven markers localized in the RUNX1 gene suggested hemi-allele deletion of the exon1 region. The copy number analysis revealed the deletion of the exon1. Although the mechanism of FPD/MM has been considered dominant-negative effect of the abnormal RUNX1 protein, these results suggest that haploinsufficiency of RUNX1 is rather responsible of the disease.
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| Free Research Field |
血液腫瘍内科学
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