Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2015 Sep-Dec;9(3):77-80.
doi: 10.5005/jp-journals-10008-1189. Epub 2016 Feb 2.

CYP1B1-mediated Pathobiology of Primary Congenital Glaucoma

Affiliations
Review

CYP1B1-mediated Pathobiology of Primary Congenital Glaucoma

Muneeb A Faiq et al. J Curr Glaucoma Pract. 2015 Sep-Dec.

Abstract

CYP1B1 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.

Keywords: CYP1B1 gene; Functional genomics; Glaucoma; Intraocular pressure; Pathobiology; Primary congenital glaucoma; Trabecular meshwork..

PubMed Disclaimer

Conflict of interest statement

Source of support: Nil

Conflict of interest: None

References

    1. Bofinger DP, Feng L, Chi LH, Love J, Stephen FD, Sutter TR, Osteen K, Costich GTG, Batt RE, Koury ST. et al. Effect of TCDD exposure on CYP1A1 and CYP1B1 expression in explant cultures of human endometrium. Toxicol Sci. 2001 Aug;62(2):299–314. - PubMed
    1. Hakkola J, Pasanen M, Pelkonen O, Hukkanen J, Evisalmi S, Anttila S, Rane A, Mantyla M, Purkunen R, Saarikoski S et al. Expression of CYP1B1 in human adult and fetal tissues and differential inducibility of CYP1B1 and CYP1A1 by Ah receptor ligands in human placenta and cultured cells. Carcinogenesis. 1997 Feb;18(2):391–397. - PubMed
    1. Stoilov I, Akarsu AN, Sarfarazi M. Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet. 1997;6(4):641–647. - PubMed
    1. Bejjani BA, Lewis RA, Tomey KF, Anderson KL, Dueker DK, Jabak M, Astle WF, Otterud B, Leppert M, Lupski JR. Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudia Arabia. Am J Hum Genet. 1998 Feb;62(2):325–333. - PMC - PubMed
    1. Buters JT, Doehmer J, Gonzalez FJ. Cytochrome P450-null mice. Drug Metab Rev. 1999 May;31(2):437–447. - PubMed

LinkOut - more resources