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AROUND THE MEDICAL CENTER :: WINTER 2014
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Identification of glaucoma gene brightens future for therapies


By Leigh MacMillan
July 2011

John Kuchtey, Ph.D., Rachel Kuchtey, M.D., Ph.D., and colleagues have identified a new candidate gene for a common form of glaucoma. Photo by Anne Rayner.

John Kuchtey, Ph.D., Rachel Kuchtey, M.D., Ph.D., and colleagues have identified a new candidate gene for a common form of glaucoma. Photo by Anne Rayner.

Glaucoma, a leading cause of vision loss and blindness worldwide, runs in families. A team of investigators from Vanderbilt University and the University of Florida has identified a new candidate gene for the most common form of the eye disorder, primary open angle glaucoma (POAG).

The findings, reported in the open-access journal PLoS Genetics, offer novel insights into glaucoma pathology and could lead to targeted treatment strategies.

Elevated pressure inside the eye is a strong risk factor for POAG. Pressure increases because of increased resistance to the flow of aqueous humor out of the eye’s front chamber (between the cornea and iris). Current treatments for POAG attempt to reduce intraocular pressure by reducing aqueous humor production or by surgically providing a clear “drain.”

The new gene, called ADAMTS10, encodes a protein involved in processing extracellular matrix, the connective and structural support tissue around cells. It’s also highly expressed in the specialized eye tissue that filters aqueous humor. Both findings support a role for the gene in aqueous humor outflow.

“Right now we know that aqueous humor outflow is impaired in POAG, but we have no way to fix it,” said Rachel Kuchtey, M.D., Ph.D., assistant professor of Ophthalmology and Visual Sciences and principal investigator of the study. “If this gene plays a role in aqueous outflow regulation, we can begin to look at it – or its molecular partners – as targets for treatment.”

John Kuchtey, Ph.D., research instructor in Ophthalmology and Visual Sciences is the study’s first author.

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