Gene discovery may lead to new drugs for glaucoma: study

U.S. and Chinese researchers said Thursday they have found how a build-up of pressure within the eye may contribute to the development and progression of glaucoma, a blinding neurodegenerative disease that affects tens of millions of people worldwide.

Previously, genome-wide association studies have identified two genes -- SIX6 and P16 -- as strongly associated with primary open-angle glaucoma, the most common form of glaucoma.

In the new study, researchers from the University of California San Diego and Sun Yat-sen University found the two genes act together to enhance the senescence and death of retinal ganglion cells in a mouse model.

More importantly, they provided evidence for the first time that both high eye pressure and the SIX6 gene can increase expression of P16, therefore linking P16 to the best-known risk factor in glaucoma.

"We were surprised by how important P16 is in this disease process and excited about the prospect of developing a new class of drugs to treat glaucoma," said senior author Kang Zhang of the Shiley Eye Institute and Institute of Engineering in Medicine at the University of California, San Diego.

Currently, glaucoma is treated by lowing intranet ocular pressure (IOP). However, lowing IOP can only slow down progression but does not prevent retinal ganglion cell death and blindness, Zhang said.

According to the research team, there are several P16 inhibitors in clinical trial for other indications and their next step is to do some preclinical studies to test their efficacy and safety for treatment of glaucoma.

"If they are effective, we may contemplate a human clinical trial in the future," Zhang added.

The findings were published in the U.S. journal Molecular Cell. Enditem