2016 Fiscal Year Final Research Report
Transcriptomics profiling in megalencephaly capillary malformation with impaired PI3K/AKT signaling
| Project/Area Number |
15K20911
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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 |
Pediatrics
Embryonic/Neonatal medicine
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| Research Institution | Chiba University |
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Principal Investigator |
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| Project Period (FY) |
2015-04-01 – 2017-03-31
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| Keywords | 巨脳症-毛細血管奇形症候群 / PI3K/AKT経路 / PI3KCA関連過成長スペクトラム / microRNA / Hedgehog経路 |
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| Outline of Final Research Achievements |
Megalencephaly capillary malformation (MCAP), caused by impaired PI3K/AKT signaling, is a congenital disease with megalencephaly, abnormal connective tissue, and polyductyly. MCAP is involved in PI3KCA related overgrowth spectrum (PROS). We analyzed transcriptosome profiling with fibroblasts, which were derived from healthy and abnormal skin lesion of a PROS patient. In mRNA array, we found 10 genes with over 5-folds upregulation, including WFDC1 and KRT17. In microRNA array, we found down-regulated miR-10a, and up-regulated miR-27b, miR-138, and miR-486. These microRNAs may contribute to pathological overgrowth in PROS via excessive proliferation of fibroblast and osteoblast. Moreover, we established measurement methods to evaluate brain morphology of megalencephaly patients using brain MRI.
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| Free Research Field |
小児科
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