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Abstract #5946 Published in IGR 2-2
Molecular genetics of primary congenital glaucoma
Sarfarazi M; Stoilov IEye 2000; 14: 422-428
Molecular genetic studies conducted during the last several years have thrown some light on the basic molecular defects in primary congenital glaucoma (PCG) and the rationale behind the clinical and genetic presentation of this pediatric eye condition. The existence of a hereditary form of PCG segregating as an autosomal recessive trait with high penetrance is now confirmed. The primary molecular defect underlying the majority of PCG cases has been identified as mutations in the cytochrome P4501B1 (CYP1B1) gene. This gene is expressed in tissues of the anterior chamber angle of the eye. Molecular modelling experiments suggest that mutations observed in PCG patients interfere with the integrity of the CYP1B1 molecule as well as its ability to adopt a normal conformation and bind them. On the basis of these observations, the authors hypothesized that CYP1B1 participates in the normal development and function of the eye by metabolizing essential molecules that are perhaps used in a signalling pathway. Revealing the identity of this molecule is the authors' major objective since it can lead to as yet unknown biochemical cascades controlling the terminal stages of anterior chamber angle development.
Dr. M. Sarfarazi, Surgical Research Center, Department of Surgery, University of Connecticut Health Center, 263 Farmington Avenue, Farmington, CT 06030-1110, USA
Classification:
1.2 Population genetics (Part of: 1 General aspects)