Beagles born with an inherited form of glaucoma, similar to primary open angle glaucoma in humans, have a change or mutation in the “spelling” of a gene called ADAMTS10. This gene is expressed primarily in the trabecular meshwork, the filter for “draining” aqueous humor in the eye. The resulting change to the ADAMTS10 protein due to the mutation is thought to cause a blockage in aqueous humor drainage and an increase in eye pressure, leading to glaucoma in these dogs.
So far, three genes have been found associated with risk of glaucoma in humans, but there are still many forms of glaucoma for which no genes have been found. This dog gene is a strong candidate for testing in humans, in particular since this is the third ADAM family gene found associated with eye disease. If this gene does turn out to be a major contributing factor, then gene therapy treatments could become a possibility for many people with this devastating disease.
Co-author Jonathan Haines, Ph.D., from Vanderbilt University in Nashville, TN, is currently funded by the Macular Degeneration Research program of the BrightFocus Foundation.
For more details, please read the press release below, adapted from the Vanderbilt University Medical Center