Finding suggests potential therapeutic targets. COLUMBIA UNIVERSITY MEDICAL CENTER
NEW YORK, June 1 — A rare eye disorder marked by color blindness, light sensitivity, and other vision problems can result from a newly discovered gene mutation identified by an international research team, including scientists from Columbia University Medical Center (CUMC). The findings, which were published today in the online edition ofNature Genetics, could lead to new, targeted treatments for this form of color blindness.
The researchers found that mutations to a gene called ATF6, a key regulator of the unfolded protein response, can lead to achromatopsia, a hereditary visual disorder characterized by color blindness, decreased vision, light sensitivity, and uncontrolled eye movement in children.
The unfolded protein response is a mechanism cells use to prevent the dangerous accumulation of unfolded or mis-folded proteins.
Based on mouse studies, the researchers suspect that the cone cells of people with achromatopsia are not permanently damaged and could be revived by enhancing the pathway that regulates the unfolded protein response. ‘Several drugs that activate this pathway have already been approved by the FDA for other conditions and could potentially benefit patients with achromatopsia,’ said one of the study leaders, Stephen Tsang, M.D., Ph.D., who is the Laszlo Z. Bito associate professor of ophthalmology, and is affiliated with the Institute of Human Nutrition, at CUMC.
Dr. Tsang’s innovative research continues to unfold the genetic basis for a variety of ocular diseases. This finding is an example of the finest clinically based science that will ultimately allow us to overcome preventable vision loss,” said George A. Cioffi, MD, Edward S. Harness Chairman and Ophthalmologist-in-Chief at NewYork-Presbyterian Hospital/Columbia University Medical Center……..
Read more: http://www.eurekalert.org/pub_releases/2015-06/cumc-ncb060115.php
Source: Eureka Alert
Image:THE OPTICAL COHERENCE TOMOGRAPHY (OCT) IMAGING REVEALED THE LOSS OF OUTER SEGMENTS IN FOVEAL CONE CELLS IN THE “OPTICAL GAP ” OF A PATIENT WITH ATF6A DEFECTS. view more
CREDIT: COURTESY OF THE LABORATORY OF DR. STEPHEN TSANG, COLUMBIA UNIVERSITY MEDICAL CENTER