2014 Fiscal Year Final Research Report
The Sonic Hedgehog signaling pathway involves duodenal atresia in patients with Down syndrome
| Project/Area Number |
24591517
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Oita University |
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Principal Investigator |
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| Project Period (FY) |
2012-04-01 – 2015-03-31
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| Keywords | Down症候群 / 十二指腸閉鎖 / Sonic Hedgehog経路 / アミロイドβ / PTCH1 |
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| Outline of Final Research Achievements |
We examined relevance of the Sonic Hedgehog pathway for the duodenal atresia in Down syndrome because its signaling plays an important role in development of the gastrointestinal tract. The subjects were used plasma and leukocytes for material specimen from 21 patients of Down syndrome included a patient with duodenal atresia and 10 healthy individuals. Amyloid β protein levels were elevated 1.67 fold high value in patients with Down syndrome as compared with healthy controls by ELISA. Furthermore, overexpression of PTCH1 and GLI3 were immunohistologically confirmed at a lesion of duodenal atresia in a Down syndrome patient. There is no correlation in the PTCH1 mRNA expression level and the amount of PTCH1 proteins. Western blot analysis revealed that the PTCH1 proteins became high levels when amyloid β proteins was high value in plasma of Down syndrome. We suggested that the duodenal atresia in Down syndrome might be caused by high expression of PTCH1 protein.
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| Free Research Field |
小児科学
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