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University of Utah study suggests cellular waste to blame for a form of blinding eye disease

Salt Lake City - Gene mutations that impair the ability of photoreceptor cells to properly dispose of waste - and as a result cause the blinding eye disease retinitis pigmentosa - have been identified by vision researchers at the University of Utah's Moran Eye Center. The discovery raises concerns that carbonic anhydrase inhibitors (medications often used to treat both heart and eye diseases) may adversely affect vision. The study is published in the November 24, 2004 online version of the journal Human Molecular Genetics (http://hmg.oupjournals.org).

Retinitis pigmentosa (RP) is one of the most common causes of blindness. It affects one in 3,500 people or approximately two million people worldwide. Patients with RP typically are diagnosed with night blindness and, as the disease progresses, they eventually lose all of their peripheral vision and a significant portion of their central vision.

Photoreceptor cells (known as rods and cones) are located in the eye's retina and are responsible for converting light into electrical impulses for transmitting messages to the brain, according to Kang Zhang, M.D., Ph.D., the study's senior author. This process of converting light to electrical signals in the retina requires a tremendous amount of energy which, in turn, creates waste in the form of carbon dioxide and bicarbonate.

According to the paper, patients in the study each had a mutation in which a defect in the process responsible for handling carbon dioxide waste and maintaining acid and base balance led to photoreceptor degeneration.

Zhang says the mutation inhibits function of a protein complex made up of carbonic anhydrase 4 (CA4) and Na+/Bicarbonate Co-transporter1 (NBC1) from doing its job of controlling acid and base balance. "In healthy eyes this acid waste is released from the retina and into the bloodstream via tiny blood vessels called the c
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Contact: Chris Nelson
christopher.nelson@hsc.utah.edu
801-587-7693
University of Utah Health Sciences Center
24-Nov-2004


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