Статья

Adult-Onset Primary Open-Angle Glaucoma Caused by Mutations in Optineurin

Tayebeh RezaieMolecular Ophthalmic Genetics Laboratory, Surgical Research Center, Department of Surgery, University of Connecticut Health Center, Farmington, CT 06030, USAAnne H. ChildDepartment of Cardiological Sciences, St. George's Hospital Medical School, London, SW17 0RE, UKRoger A. HitchingsGlaucoma Research Unit, Moorfields Eye Hospital, London, ECIV 2PD, UKGlen BriceDepartment of Cardiological Sciences, St. George's Hospital Medical School, London, SW17 0RE, UKLauri MillerDepartment of Pathology, University of Connecticut Health Center, Farmington, CT 06030, USAMiguel Coca‐PradosDepartment of Ophthalmology and Visual Science, Yale University, New Haven, CT 06520, USAElise HéonDepartment of Ophthalmology, Vision Research Program UHN, Toronto, Canada M5T 2S8Theodore KrupinUniversity Eye Specialists, 676 North St. Clair, Suite 320, Chicago, IL 60611, USARobert RitchNew York Eye and Ear Infirmary, and New York Medical College, Valhalla, NY 10003, USADonald L. KreutzerDepartment of Pathology, University of Connecticut Health Center, Farmington, CT 06030, USARonald P. CrickInternational Glaucoma Association, 108C Warner Road, London, SE5 9HQ, UKMansoor SarfaraziMolecular Ophthalmic Genetics Laboratory, Surgical Research Center, Department of Surgery, University of Connecticut Health Center, Farmington, CT 06030, USA

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Аннотация

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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Идентификаторы

DOI: 10.1126/science.1066901

Цитирования и источники

Цитирований: 2Использованных источников: 0

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