[关键词]
[摘要]
原纤维蛋白1(FBN1)是一种由FBN1基因编码的大型、富含半胱氨酸的钙结合细胞外基质糖蛋白，是微纤维的结构成分。该蛋白广泛分布于晶状体悬韧带、小梁网、角膜、视网膜及其微血管等组织的结缔组织内，为其提供机械支撑。研究表明，FBN1基因突变导致FBN1蛋白表达的下调能够显著破坏微原纤维组装及TGF-β等信号调控功能，与晶状体异位、青光眼、扁平角膜及视网膜血管性疾病等多种重要眼病的发生发展密切相关。文章综述了FBN1基因突变相关眼科疾病的临床表征和分子机制，旨在探讨其发病机制与治疗策略，为开发新的靶向疗法提供分子依据。
[Key word]
[Abstract]
Fibrillin-1(FBN1)is a large-sized, cysteine-rich, calcium-binding extracellular matrix glycoprotein encoded by the FBN1 gene. As a structural component of microfibrils, this protein is widely distributed in the connective tissues of various ocular structures, including the zonules of Zinn, trabecular meshwork, cornea, retina, and its microvessels, providing mechanical support. Studies have shown that mutations in the FBN1 gene, resulting in decreased protein expression, significantly disrupt microfibril assembly and TGF-β-mediated signaling pathways. These pathogenic mechanisms are strongly linked to the development of key ocular disorders, such as lens dislocation, glaucoma, keratoconus, and retinal vascular diseases. This review summarizes and discusses the clinical manifestations and molecular mechanisms of FBN1-related ophthalmic conditions, with the aim of elucidating their pathogenesis and therapeutic strategies while laying molecular foundations for the development of novel targeted therapies.
[中图分类号]
[基金项目]
山东省中医药科技项目(No.Z-2023068); 山东省医药卫生科技项目(No.202407021361)
