2013 Fiscal Year Final Research Report

Development of therapy for craniosynostosis in Apert syndrome by FGF signal control

Research Project

Project/Area Number	24890063
Research Category	Grant-in-Aid for Research Activity Start-up
Allocation Type	Single-year Grants
Research Field	Orthodontic/Pediatric dentistry
Research Institution	Tokyo Medical and Dental University
Principal Investigator	SUZUKI Hiroyuki 東京医科歯科大学, 硬組織疾患ゲノムセンター, 特任助教 (70634492)
Project Period (FY)	2012-08-31 – 2014-03-31
Keywords	歯科 / 先天異常疾患
Research Abstract	Apert syndrome is characterized by craniosynostosis and syndactyly, and is predominantly caused by point mutation of either S252W or P253Rin the fibroblast growth factor receptor (FGFR) 2 gene. These mutation cause activation of FGFR2 depending on ligand binding. Recently, an Apert syndrome mouse model(FGFR2 knock-in mouse model) showed phenotypes similar to those of Apert syndrome patients. In this study, we plan to investigate the phenotypes of Apert syndrome mouse model to clarify the pathogenic mechanism of Apert syndrome. Moreover, we analyze the effects of FGF signal control by soluble FGFR2 protein or heparin sulfate-degrading enzyme on craniosynostosis to improve new noninvasive therapeutic approach. We planed and tested the experiment that we operated heparin sulfate-degrading enzyme on coronal suture of mouse at a fetal age by nanogel as a carrier material locally.