The Sonic Hedgehog signaling pathway involves duodenal atresia in patients with Down syndrome

Research Project

Project/Area Number	24591517
Research Category	Grant-in-Aid for Scientific Research (C)
Allocation Type	Multi-year Fund
Section	一般
Research Field	Pediatrics
Research Institution	Oita University
Principal Investigator	AKIYOSHI Kensuke 大分大学, 医学部, 客員研究員 (70305043)
Project Period (FY)	2012-04-01 – 2015-03-31
Project Status	Completed (Fiscal Year 2014)
Budget Amount *help	¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000) Fiscal Year 2014: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000) Fiscal Year 2013: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000) Fiscal Year 2012: ¥2,860,000 (Direct Cost: ¥2,200,000、Indirect Cost: ¥660,000)
Keywords	Down症候群 / 十二指腸閉鎖 / Sonic Hedgehog経路 / アミロイドβ / PTCH1 / ソニックヘッジホッグ経路 / Sonic Hedgehog pathway / Duodenal atresia
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.