颌面部发育畸形与维甲酸及信号分子通路

Correlation of maxillofacial developmental abnormalities with retinoic acid signaling pathways

以唇腭裂为代表的颌面部发育畸形是由多重环境因素与多个基因交互作用所引起的,其中腭裂的发生既可以来自腭突自身的缺陷,又可以继发于颌面部其他组织的缺陷,比如与腭的组织结构、生理功能及生长发育密切相关的舌的发育异常。维甲酸(retinoic acid,RA)作为治疗肿瘤的常见药物,已被公认为颌面部发育的较常见致畸因子,并与WNT、TGF、FGF及SHH等信号分子通路相互作用共同参与颌面部发育的调控。

Cleft lip and/or cleft palate（ CL/P） as the representative of maxillofacial malformations is caused by interaction of multiple genetic factors with environmental factors. Cleft palate may be intrinsic to the palatal shelves or secondary to deficiencies in other regions of the craniofacial complex,such as the tongue which organizational structure,physiological function and developmental processes is closely related to the palate. As an anticancer drug,retinoic acid（ RA,the derivative of vitamin A） is considered to be a common teratogenic factor,and interacts with WNT,TGF,FGF and SHH signaling pathways to control the development of maxillofacial region.