Abstract
ABSTRACTCYP1B1 is a dioxin-inducible enzyme belonging to the cytochrome P450 superfamily. It has been observed to be important in a variety of developmental processes including in utero development of ocular structures. Owing to its role in the developmental biology of eye, its dysfunction can lead to ocular developmental defects. This has been found to be true and CYP1B1 mutations have been observed in a majority of primary congenital glaucoma (PCG) patients from all over the globe. Primary congenital glaucoma is an irreversibly blinding childhood disorder (onset at birth or early infancy) typified by anomalous development of trabecular meshwork (TM). How CYP1B1 causes PCG is not known; however, some basic investigations have been reported. Understanding the CYP1B1 mediated etiopathomechanism of PCG is very important to identify targets for therapy and preventive management. In this perspective, we will make an effort to reconstruct the pathomechanism of PCG in the light of already reported information about the disease and the CYP1B1 gene.How to cite this article: Faiq MA, Dada R, Qadri R, Dada T. CYP1 B1-mediated Pathobiology of Primary Congenital Glaucoma. J Curr Glaucoma Pract 2015;9(3):77-80.
Highlights
Functional InsightsThere are a number of ways to execute the functional characterization of these mutations but the most viable would be to express the wild and mutant types in bacterial expression systems, purify them and compare their activities with respect to various metabolic processes including, but not limited to, estradiol metabolism, retinoid metabolism, arachidonate metabolism and melatonin metabolism (pathways crucially imperative in eye development)
We have recently reviewed the mutational update of the CYP1B1 gene in primary congenital glaucoma (PCG) and reported classified mutations exon-wise, country-wise, population-wise and with respect to many other parameters.[18]
Mutations in CYP1B1 gene are the major cause of PCG
Summary
There are a number of ways to execute the functional characterization of these mutations but the most viable would be to express the wild and mutant types in bacterial expression systems, purify them and compare their activities with respect to various metabolic processes including, but not limited to, estradiol metabolism, retinoid metabolism, arachidonate metabolism and melatonin metabolism (pathways crucially imperative in eye development). We have recently reviewed the mutational update of the CYP1B1 gene in PCG and reported classified mutations exon-wise, country-wise, population-wise and with respect to many other parameters.[18] As is the generally accepted notion, disease causing mutations in CYP1B1 gene cause derangements in the protein structure in the mutant forms ensuing functional insufficiency This means that functional characteristics of wild-type protein and its mutant forms are different; this causes alterations in enzymatic activity (in the mutants) with respect to various substrates[34] leading to physiological anomalies and precipitating disease phenotype
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