D348N Mutation of BFSP1 Gene in Congenital Cataract: it Does Matter

Abstract

Beaded filament structural protein 1 (BFSP1) gene plays important role in the development of congenital cataract. We aimed to investigate and analyze the molecular mechanism of congenital cataract caused by D348N mutation of BFSP1 gene, and to provide evidence for the intervention of congenital cataract. BFSP1 and CP49 genes were cloned, wild type and mutant expression plasmids of BFSP1 were constructed and transfected into 293T cells. The BFSP1 wild type and mutant (D348N) gene sequence (NM_001195) were constructed into pEGFP-N1 vector by the restriction site NheI/KpnI. The effect of mutation on cell proliferation and apoptosis was analyzed. There was no significant change between the expression site of BFSP1 D348N mutation and the wild type. The expression of BFSP1 protein in wild group was higher than that in mutant group. CCK8 detection showed that the proliferation ability of 293T cells in mutant group was weaker than that in BFSP1 group. The mutation led to an increase in apoptosis. BFSP1 mutation significantly decreases the expression of BFSP1 protein, weakened the ability of cell proliferation and increased apoptosis. BFSP1 D348N mutation may be closely associated with congenital cataract and is of great significance to the investigations of the mechanism and intervention of congenital cataract.

Keywords: BFSP1 gene; Congenital cataract; Genetics; Mutation.