Blind Dogs with Genetic Mutation May Lead to a Cure for Blindness in Humans

First Posted: Oct 02, 2015 06:57 AM EDT

Genetic mutations may actually lead to a form of blindness. Scientists have found the genetic underpinnings of achromatopsia in dogs, which is a rare, inherited vision disorder that affects the eye's cone cells, resulting in problems with daytime vision, clarity and color perception, which could help humans in the future.

In this latest study, the researchers began with a German shepherd that was brought to Penn Vet's Ryan Hospital. The dog displayed a classical loss of cone vision, and couldn't see well in the daylight. However, it had no problem in dim light conditions.

The researchers wanted to identify the genetic cause. However, the dog had none of the "usual suspects" of known gene mutations responsible for achromatopsia in dogs. In order to find the new mutation, the scientists looked at five key genes that play a role in photototransduction, which is the process by which light signals are transmitted through the eye to the brain.

In this case, they found what they were looking for on the CNGA3 gene, which encodes a cyclic nucleotide channel and plays a key role in transducing visual signals. The researchers then looked at the consequences of these particular mutations, and showed how small changes in protein sequence can have a major impact on signaling.

"Our work in the dogs, in vitro and in silico shows us the consequences of these mutations in disrupting the function of these crucial channels," said Karina Guziewicz, senior author of the new study, in a news release. "Everything we found suggests that gene therapy will be the best approach to treat this disease, and we are looking forward to taking that next step."

The findings provide new insights into the molecular cause of this form of blindness, which may open up the way for new treatments in humans.

The findings are published in the journal PLOS One.

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