Adult-onset primary open-angle glaucoma caused by mutations in optineurin - PubMed (original) (raw)

. 2002 Feb 8;295(5557):1077-9.

doi: 10.1126/science.1066901.

Anne Child, Roger Hitchings, Glen Brice, Lauri Miller, Miguel Coca-Prados, Elise Héon, Theodore Krupin, Robert Ritch, Donald Kreutzer, R Pitts Crick, Mansoor Sarfarazi

Affiliations

Adult-onset primary open-angle glaucoma caused by mutations in optineurin

Tayebeh Rezaie et al. Science. 2002.

Abstract

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, we 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-alpha signaling 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 we speculate that it plays a neuroprotective role.

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