Major intrinsic protein (MIP)/aquaporin 0 (AQP0) mRNA gene expression in congenital cataracts

Abstract

BACKGROUND: Congenital cataracts can cause visual impairment and blindness in infants, and approximately 50% of all congenital cataract cases have a genetic basis. The most abundant membrane protein in lens fiber cells is major intrinsic protein (MIP)/aquaporin 0 (AQP0), which facilitates the movement of water into and across the lens fiber cells and acts as an adhesion molecule by forming “thin junctions.” A lens that lacks AQP0 loses its regular shape and has a clear disorganization of the fiber cells causing the formation of cataracts. This study aimed to assess mRNA expression of the MIP/AQP0 gene in congenital cataract patients.METHODS: This study used analytic observation with a cross-sectional approach on 14 congenital cataract patients. Whole blood samples were tested for feasibility using a spectrophotometer and examined for mRNA expression of the MIP/AQP0 gene using RT-PCR. The Chi-squared and Mann-Whitney Tests were used to analyze the relationships, with a significance value of P<0.05.RESULTS: The results showed a decrease in mRNA expression of the MIP/AQP0 gene in 57.1% of cases. Nuclear cataracts displayed the greatest increases and decreases in expression. There were no significant relationships between gender, cataract type, or comparisons between the case and control groups and the mRNA expression of the MIP/AQP0 gene.CONCLUSIONS: In this study, a decrease in mRNA expression of the MIP/AQP0 gene was found in patients with congenital cataracts. The majority of patients who experienced increased and decreased expression of MIP/AQP0 mRNA were those with nuclear cataracts.

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