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Study Links Genetic Mutations to Normal-Pressure Glaucoma

BrightFocus-funded research could lead to new protective therapies

May 11, 2012

Source: PLoS Genetics

Findings: Researchers, including BrightFocus-funded Yutao Liu, M.D., Ph.D, have linked two genetic mutations to normal-pressure glaucoma (NPG), a type of open-angle glaucoma that does not result in increased eye pressure. Not much is known about how patients with NPG have increased susceptibility to optic nerve degeneration. A side result from the study found that these genetic variants also are associated with exfoliation glaucoma, a type of glaucoma in which abnormal deposits can cover the lens or block the eye's drainage system.

The results of this study were reported online in the open-access journal, PLoS Genetics.

Significance: The researchers' identification of genes responsible for NPG was a large step toward understanding this type of glaucoma. The proteins expressed from these genes may interact with another protein already linked with glaucoma, called transforming growth factor beta (TGF-beta). TGF-beta controls cell growth and survival throughout the body.

In the future, these two genetic mutations could be used for developing gene-based disease detection and treatment. Also, therapies targeting TGF-beta to prevent optic nerve cells from dying could be effective for multiple forms of glaucoma.

BrightFocus currently funds a number of co-authors, including Dr. Jonathan Haines to look for genetic associations with age-related macular degeneration (AMD) in the Amish, Dr. Margaret Pericak-Vance to search for genetic links in Alzheimer's disease and in age-related macular degeneration, Dr. Donald Zack to screen for AMD protective drugs, and Dr. Joel Schuman to visualize the fluid flow in the front of the eye in glaucoma. Former grantees are Drs. Kang Zhang and Douglas Vollrath. R. Rand Allingham is an advisor on BrightFocus’ National Glaucoma Research Scientific Review Committee.


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Disclaimer: The information provided in this section is a public service of the BrightFocus Foundation, and should not in any way substitute for the advice of a qualified healthcare professional, and is not intended to constitute medical advice. Although we take efforts to keep the medical information on our website updated, we cannot guarantee that the information on our website reflects the most up-to-date research. Please consult your physician for personalized medical advice; all medications and supplements should only be taken under medical supervision. BrightFocus Foundation does not endorse any medical product or therapy.

Some of the content in this section is adapted from other sources, which are clearly identified within each individual item of information.

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