Mutated Gene in Dogs May Help Treat Blindness in Humans

Scientists have discovered a mutated gene in dogs that may just help treat blindness. They've found a MERTK gene defect responsible for a recently identified form of progressive retinal atrophy in Swedish vallhund dogs.

Inherited retinal diseases are among the leading causes of incurable blindness in humans as well as in dogs. Most of these conditions are classified as progressive retinal atrophy (PRA). Because of the similarities in ocular anatomy, canine models can contribute significantly to understanding retinal disease mechanisms and to developing new therapies for humans.

In this case, the researchers identified a gene that can be associated with a form of human retinitis pigmentosa (RP), which is one of the most common incurable blindness worldwide.

"The work to characterize these diseases in two Nordic dog breeds drew from well-established international collaborations between clinicians, geneticists, and dog breeders," said Hannes Lohi, one of the researchers, in a news release. "This type of longstanding, multi-disciplinary collaboration certain strengthens a team's response to the challenges of unraveling complex problems and creating innovative solutions."

In this case, the discovery of the gene detect could potentially lead to the development of new treatments. The scientists plan to conduct future studies that will include the search for the regulatory mutation and study the overexpression-related disease mechanisms. This will have a possibility for a therapeutic option with MERTK inhibitors. In the meantime, the researchers hope to create a genetic marker test to revise breeding programs to reduce the frequency of this disease in the Swedish vallhund breed.

The findings are published in the journal PLOS One.

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