In-silico Analysis of Non-synonymous SNPs of CYPIBI Gene and Their Potential Effects on Cytochrome P450 Protein Associated with Glaucoma

Non-synonymous SNPs of CYPIBI Gene with Glaucoma

Abstract

Glaucoma, the leading cause of irreversible blindness worldwide, results from fluid accumulation in the eye, causing optic nerve damage. It is classified into two major types: open-angle and closed-angle glaucoma. Mutations in the CYP1B1 gene have been linked to glaucoma, as the gene encodes a protein in the cytochrome P450 enzyme family, critical for detoxifying carcinogens and metabolizing drugs, toxins and endogenous compounds. Non-synonymous single nucleotide polymorphisms in the CYP1B1 gene result in altered amino acid sequences, disrupting the enzyme's structure and function of the 612 reported mutations in CYP1B1, 113 are considered deleterious based on in silico tools. These findings provide a foundation for future in vitro studies on drug design and therapeutic interventions targeting glaucoma- associated CYP1B1 mutations. This research enhances our understanding of the molecular mechanisms underlying glaucoma and opens new avenues for targeted treatment strategies.