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Abstract #6597 Published in IGR 4-1
Adult-onset primary open-angle glaucoma caused by mutations in optineurin
Rezaie T; Child A; Hitchings R; Brice G; Miller L; Coca Prados M; Heon E; Krupin T; Ritch R; Kreutzer DScience 2002; 295:1077-1079
Primary open-angle glaucoma (POAG) affects 33 million individuals worldwide and is a leading cause of blindness. In a study of 54 families with autosomal dominantly inherited adult-onset POAG, the authors identified the causative gene on chromosome 10p14 and designated it OPTN (for 'optineurin'). Sequence alterations in OPTN were found in 16.7% of families with hereditary POAG, including individuals with normal intraocular pressure. The OPTN gene codes for a conserved 66-kilodalton protein of unknown function that has been implicated in the tumor necrosis factor-α signalling pathway and that interacts with diverse proteins including Huntingtin, Ras-associated protein RAB8, and transcription factor IIIA. Optineurin is expressed in trabecular meshwork, nonpigmented ciliary epithelium, retina, and brain, and the authors speculate that it plays a neuroprotective role.
Dr. T. Rezaie, Molecular Ophthalmic Genetics Laboratory, Surgical Research Center, Department of Surgery, University of Connecticut Health Center, Farmington, CT 06030, USA
Classification:
1.2 Population genetics (Part of: 1 General aspects)
