| Budget Amount *help |
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2016: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2015: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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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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