Slater Bethany J, Lenton Kelly A, Kwan Matthew D, Gupta Deepak M, Wan Derrick C, Longaker Michael T
Stanford, Calif. From the Department of Surgery, Division of Plastic and Reconstructive Surgery, Stanford University School of Medicine.
Plast Reconstr Surg. 2008 Apr;121(4):170e-178e. doi: 10.1097/01.prs.0000304441.99483.97.
Craniosynostosis, or the premature fusion of one or more cranial sutures, is a relatively common congenital defect that causes a number of morphologic and functional abnormalities. With advances in genetics and molecular biology, research of craniosynostosis has progressed from describing gross abnormalities to understanding the molecular interactions that underlie these cranial deformities. Animal models have been extremely valuable in improving our comprehension of human craniofacial morphogenesis, primarily by human genetic linkage analysis and the development of knock-out animals. This article provides a brief review of perisutural tissue interactions, embryonic origins, signaling molecules and their receptors, and transcription factors in maintaining the delicate balance between proliferation and differentiation of cells within the suture complex that determines suture fate. Finally, this article discusses the potential implications for developing novel therapies for craniosynostosis.
颅缝早闭,即一条或多条颅缝过早融合,是一种相对常见的先天性缺陷,会导致多种形态学和功能异常。随着遗传学和分子生物学的发展,颅缝早闭的研究已从描述大体异常进展到了解这些颅骨畸形背后的分子相互作用。动物模型在提高我们对人类颅面形态发生的理解方面极具价值,主要通过人类基因连锁分析和基因敲除动物的培育。本文简要综述了骨缝周围组织相互作用、胚胎起源、信号分子及其受体,以及转录因子在维持决定骨缝命运的骨缝复合体中细胞增殖与分化之间微妙平衡方面的作用。最后,本文讨论了开发颅缝早闭新疗法的潜在意义。