[关键词]
[摘要]
PRSS56基因编码一种胰蛋白酶样丝氨酸蛋白酶，是调控眼轴长度的关键分子。功能缺失突变导致短眼轴，而功能获得性变异驱动眼轴增长，呈现“同一基因、相反表型”的双向调控特征。在功能缺失端，以c.1066dupC为代表的热点突变，通过截短蛋白导致真性小眼球与后部小眼症； 功能获得性变异则上调PRSS56表达，驱动眼轴过度伸长，导致高度近视。文章从PRSS56功能缺失与功能获得两个维度，系统梳理其遗传突变谱、分子调控网络、下游信号通路及转化治疗前景。
[Key word]
[Abstract]
The PRSS56 gene encodes a trypsin-like serine protease, which is a key molecule in the regulation of ocular axial length. Loss-of-function mutationin PRSS56 result in a shortened axial length, whereas gain-of-functionmutation promote axial elongation, exemplifying the bidirectional regulatory paradigm often termed “one gene, opposite phenotypes”. At the loss-of-function mutation, the hotspot mutation represented by c.1066 dupC leads to nanophthalmos and posterior microphthalmia by truncation of the protein. The gain-of-function mutation up-regulates the expression of PRSS56, driving excessive axial elongation, resulting in high myopia. This review systematically summarizes the genetic mutation spectrum, molecular regulatory networks, downstream signaling pathways, and translational therapeutic prospects of PRSS56 from both loss-of-function and gain-of-functionmutations.
[中图分类号]
[基金项目]
国家自然科学基金资助项目(No.82401826); 江苏省中医药管理局“高水平医院建设重点病种临床研究”项目(No.GSPYY2023009)
