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研究発表を行った学会；
・The Association for Research in Vision and Ophthalmology. 2008 Annual Meeting.
　２００８年４月２７日〜５月１日（岡崎）
　J Clin Invest. 119(7):1997-2008. 2009.

タイトル；Heparan Sulfate Deficiency Leads to Peters’ Anomaly in Mice by Disturbing Neural Crest TGFβ2 Signaling.
　
発表者；　岩尾　圭一郎　氏
　　　（佐賀大学　医学部　眼科学講座、
　　　　熊本大学　大学院生命科学研究部　視機能病態学分野）

Abstract；
During human embryogenesis, neural crest cells migrate to the anterior chamber of the eye, and then differentiate into the inner layers of the cornea, the iridocorneal angle, and the anterior portion of the iris. When proper development does not occur, this causes iridocorneal angle dysgenesis and intraocular pressure (IOP) elevation, which ultimately results in developmental glaucoma. Here, we show that heparan sulfate (HS) deficiency in neural crest cells causes anterior chamber dysgenesis, which includes corneal endothelium defect, corneal stroma hypoplasia and iridocorneal angle dysgenesis, all of which are phenotypes in the human developmental glaucoma, Peters’ anomaly. In the neural crest cells of mice embryos, gene disruption of Ext1, which is an indispensable enzyme for HS synthesis, resulted in disturbance of TGFβ2 signaling. This led to a reduced phosphorylation of Smad2 and a downregulated expression of Foxc1 and Pitx2, which are the transcriptional factors that have been identified as the causative genes for developmental glaucoma. Furthermore, impaired interaction between HS and TGFβ2 induced developmental glaucoma, which manifested as an IOP elevation caused by iridocorneal angle dysgenesis. Thus, these findings suggest that HS is necessary in order for neural crest cells to form the anterior chamber via TGFβ2 signaling. Disturbances of the HS synthesis might contribute to the pathology of developmental glaucoma.