Candidate Gene Identified for Primary Open Angle Glaucoma

A team of investigators has identified a new candidate gene for the most common form of the eye disorder, primary open angle glaucoma (POAG).

Using a canine model, a team of investigators from Vanderbilt University (Nashville, TN, USA) and the University of Florida (Gainesville, FL, USA) sequenced the entire canine locus, over 4 million bases of DNA. They discovered that a gene called ADAMTS10 was the strongest disease-associated candidate. POAG-affected dogs have a single mutation in the gene, which encodes a protein involved in processing the extracellular matrix (ECM), the connective and structural support tissue around cells.

"It has been known for decades that the reason the pressure goes up in POAG is because the outflow pathway for aqueous humor is not working," said Rachel Kuchtey, MD, PhD, assistant professor of ophthalmology and visual sciences at Vanderbilt University Medical School, and principal investigator of the current study.

The findings, reported February 17, 2011, in the open-access journal PLoS Genetics offer novel insights into glaucoma pathology and could lead to targeted treatment strategies.

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University of Florida