颅缝早闭的病因学机制和治疗靶标  

Etiologic Mechanisms and Therapeutic Targets of Craniosynostosis

作　　者：翁振坤 陈秀 顾爱华[1,2] WENG Zhenkun;CHEN Xiu;GU Aihua(State Key Laboratory of Reproductive Medicine and Offspring Health,Nanjing Medical University,Nanjing 211166,China;Key Laboratory of Modern Toxicology of Ministry of Education,School of Public Health,Nanjing Medical University,Nanjing 211166,China)

机构地区：[1]南京医科大学生殖医学与子代健康全国重点实验室,南京211166 [2]南京医科大学公共卫生学院现代毒理学教育部重点实验室,南京211166

出　　处：《中国细胞生物学学报》2024年第4期801-810,共10页Chinese Journal of Cell Biology

基　　金：国家重点研发计划(批准号:2019YFA0802701)资助的课题。

摘　　要：颅缝早闭是一种先天性颅面疾病,其特征是一条或多条颅缝过早融合。重度颅缝早闭患者常见的并发症包括颅内压升高和神经认知功能障碍。颅缝早闭可单独发生或与多种综合征相关。不同类型的颅缝早闭与特定的基因突变有关。此外,表观遗传改变和环境因素也被认为在颅缝早闭的病理生理过程中起着重要作用。该文综述了近年来关于颅缝早闭的类型、临床表现、病因及关键分子信号通路调控的研究进展,并探讨了在动物模型中开发的治疗靶标,为颅缝早闭的发生、发展及治疗提供全面且系统的认识。Craniosynostosis is a congenital craniofacial disorder characterized by premature fusion of one or more cranial sutures.Common complications in patients with severe craniosynostosis include increased intracranial pressure and neurocognitive dysfunction.Craniosynostosis can occur alone or in association with multiple syndromes.Different types of craniosynostosis are associated with specific gene mutations.In addition,epigenetic alterations and environmental factors are also thought to play an important role in the pathophysiology of craniosynostosis.This article reviews the research progress on the types,clinical manifestations,etiology and key molecular signaling pathways of craniosynostosis in recent years,and discusses the therapeutic targets developed in animal models,so as to provide a comprehensive and systematic understanding of the occurrence,development and treatment of craniosynostosis.

关 键 词：颅缝早闭 遗传变异 信号通路 治疗靶标 

分 类 号：R748[医药卫生—神经病学与精神病学]