The identification of a gene mutation in dogs with progressive retinal atrophy could lead to new therapies for blindness in humans.

This form of canine atrophy is the equivalent of retinitis pigmentosa in humans. Both conditions are marked by the early loss of rod photoreceptors, which are responsible for night vision.

In 2011, the Michigan State University research team had identified a gene mutation in papillon dogs with progressive retinal atrophy (PRA). Subsequently, they conducted experiments to make sure the mutation caused the disease. They found that the mutation of the CNGB1 gene deprives the photoreceptors of a protein that they need to function properly. The gene is responsible for about 70% of observed canine PRA.

The research team is now working on developing a gene therapy to correct the problem. Given the similarities between human and canine retinal dystrophy, the development of therapies for dogs could provide an important foundation for preclinical assessment of therapies for humans.

Source:

http://cvm.msu.edu/about-the-college/news-and-events/news/cngb1-gene