A cure for achromatopsia? A team of scientists from Temple University in Philadelphia, Pennsylvania and the University of Pennsylvania (USA) has discovered two genetic mutations that may be the cause of a rare form of color blindness known as achromatopsia (or monochromatism), in the that patients with this rare, congenital and non-progressive disease suffer from a vision anomaly whereby they only perceive the colors white, black, gray and all their shades and have great sensitivity to light .
There is currently no cure for this rare disease , so current treatments only serve to somewhat control the disease through the use of contact lenses that reduce sensitivity to light and improve visual function.
Now, thanks to this promising research, gene therapy could open up a new possibility, not only of treatment but of cure . The scientists conducted an experiment on a German shepherd whose owners were concerned about his vision (the dog did not see well in light but had no vision problems in low light conditions). To discover what caused this loss of vision in the dog, they began the analysis of five key genetic mutations so that light signals reach the eye to the brain. In this study, they found a mutation in a gene, called CNGA3, responsible for the loss of vision in dogs, and this genetic mutation that has never been identified before in dogs, is found in humans.
Continuing with the experiment, the researchers carried out a specialized computer simulation to identify small changes or variations in protein sequences with important implications for visual signaling. Completion of this analysis resulted in two mutations in the dog CNGA3 gene that affected the conversion of visual signals.
“ Our work in dogs, in vitro -lab- and in silico -computer simulation- shows us the consequences of these mutations in the interruption of the function of these crucial channels. Everything we found suggests that gene therapy will be the best approach to treating this disease , and we are looking forward to taking the next step, ”explains Karina Guziewicz, leader of the research.
The study has been published in the journal PloS One .
