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    Animal model connects gene mutation and normal-tension glaucoma

    Transgenic mouse shows association between TBK1 gene duplication and glaucoma


    Take home message: Transgenic mice engineered to have extra copies of the TBK1 gene showed effects similar to those in human patients with normal-tension glaucoma, providing clues to pathophysiology and potential treatments.



    Iowa City, IA—Mice that have a gene defect associated with normal-tension glaucoma (NTG) can provide clues to the causes of human disease and to future treatments of NTG, according to John H. Fingert, MD, PhD, associate professor of ophthalmology and visual sciences, University of Iowa Carver College of Medicine, Iowa City.

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    Dr. Fingert initially addressed the genetics of NTG, which sometimes is caused by a single gene and other times by the combined actions of many genes.

    The first gene associated with NTG, optineurin (OPTN), was discovered in 2002. Multiple studies have confirmed this finding, and it is associated with 1% to 2% of NTG cases, he said.

    More recently, Dr. Fingert’s lab has discovered that gene duplications and triplications of the TANK binding kinase 1 gene (TBK1) are also associated with NTG about 1% to 2% of the time. Studies in the United States, Japan, and Australia have confirmed that duplication of TBK1 is associated with the disease.

    TBK1 is expressed in just the right place in the eye to cause normal-pressure glaucoma,” Dr. Fingert said.

    The gene is known to have roles in important biological pathways, including autophagy.

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