颅缝早闭相关分子生物学及遗传机制的研究进展

Advances in molecular biology and genetic mechanism of craniosynostosis

颅缝早闭是一种较常见的先天性颅面畸形,严重影响了大脑的正常发育。相关因子及基因参与硬脑膜、颅骨和颅缝之间相互作用的调控,最终使颅缝闭合;而相关调控基因的突变将导致不同类型的颅缝早闭。调控颅缝形成和成骨细胞发育的多种细胞因子及与颅骨发育、颅缝闭合相关的基因突变,通过多维度相互作用形成错综复杂的调控网络。颅缝发育及闭合的信号级联传导系统受到许多遗传突变及细胞内外信号干扰的破坏,可导致颅缝早闭的发生。该文对颅缝早闭的关键调控因素的研究进展进行了综述。

Craniosynostosis is a common congenital craniofacial deformity,which seriously affects the normal development of the brain.The related factors and genes are involved in the regulation of the interaction between the dura mater,the skull,and the cranial sutures,which eventually lead to the closure of cranial sutures.Additionally,mutations of related genes will lead to different types of craniosynostosis.Various cytokines that regulate the formation of cranial sutures and the development of osteoblasts,as well as gene mutations related to skull development and closure of cranial sutures,have formed an intricate regulatory network through multi-dimensional interactions.The signaling conduction system of cranial sutures development and closure is damaged by many genetic mutations and interference of intracellular and extracellular signals,which may lead to craniosynostosis.This review focused on the research progress of the key regulatory factors of craniosynostosis.