INF2基因在家族性局灶节段性肾小球硬化中的研究

INF2 gene in familial focal segmental glomerulosclerosis

新近发现INF2(inverted formin2)基因是常染色体显性遗传性局灶节段性肾小球硬化的主要致病基因之一,编码成蛋白家族成员INF2蛋白。INF2蛋白作为一种重要的肌动蛋白成核因子,可促进球状肌动蛋白向纤维状激动蛋白的转换,及细胞微管骨架的形成。肾小球足细胞作为是一种终末分化的细胞,对细胞骨架高度敏感。INF2可通过多条通路的共同作用,最终破坏足细胞骨架的正常结构及足细胞特异性相关蛋白的表达而致病。

The recent identification of mutations in INF2 （inverted formin 2） gene is a major cause of autosomal dominant focal segmental glomerulosclerosis （ FSGS）, which encodes a member of formin family of actin-regulating proteins. INF2 can mediate the polymerization of actin and promote the formation of cytoskeleton. Podocytes are a kind of terminally differentiated cells in glomeruli, which is sensitive to cytoskeleton. INF2 can destroy the normal structure of cytoskeleton and affect the expression of podocyte protein which plays an essential role in the pathogenesis of FSGS.