2014 Fiscal Year Final Research Report
| Project/Area Number |
24390264
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Partial Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Osaka University |
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Principal Investigator |
OZONO Keiichi 大阪大学, 医学(系)研究科(研究院), 教授 (20270770)
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| Co-Investigator(Kenkyū-buntansha) |
MICHIGAMI Toshimi 大阪府立母子保健総合医療センター(研究所), 部長 (00301804)
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| Project Period (FY) |
2012-04-01 – 2015-03-31
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| Keywords | 成長障害 / 骨系統疾患 / C型Na利尿ペプチド / 成長軟骨 / cGMP / 創薬 |
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| Outline of Final Research Achievements |
We have established the disease entity associated with tall stature and long hallux due to the gain-of-function type mutations of NPR2.The disease is named as epiphyseal chondrodysplasia, Miura Type and filed (#615923)in OMIM (Online Mendelian Inheritance in Man). Transgenic mice with the collagen type XI promoter/enhancer-driven NPR2 mutation showed the overgrowth and deformity of long bones. The growth plate of the transgenic mice were elongated, especially hypertrophic zone, and gene expression is being analyzed in chondrocytes of the growth plate. We found that NT-pro CNP is a good marker of the height velocity in patients with short stature before and after the growth hormone therapy. Ten small compounds are identified by in silico as candidates of NPR2 activator and being analyzed by the generation of cGMP in cultured cells expressing NPR2.
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| Free Research Field |
小児科学
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