A newly discovered mutated gene in dogs may open the door to treatments for blindness in humans, according to a new study.

The defect in question is in the MERTK gene, which has been identified as the cause for a form of progressive retinal atrophy (PRA) in Swedish vallhund dogs. PRA is a type of inherited retinal disease that often leads to incurable blindness in both dogs and humans. Our furry friends actually have many ocular similarities to us, and so by better understanding retinal diseases in canines, we may be able to develop therapies for diseases that cause blindness in the future.

What's more, in this latest study the gene identified as a cause of PRA in the Swedish vallhund is reportedly associated with a form of human retinitis pigmentosa (RP), one of the most common incurable blindness worldwide.

The findings were published in the journal PLOS ONE.

Dr. András Komáromy at Michigan State University, along with Professor Hannes Lohi and Dr. Saija Ahonen at the University of Helsinki, collaborated on a decade-long project that led to the identification of the MERTK gene mutation in Swedish vallhunds. Together the Finnish-North American team traveled across three continents and examined 324 dogs in seven countries to reach their conclusion.

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

Next they plan to study overexpression-related disease mechanisms, while also trying to create a therapeutic option for suppressing the MERTK gene mutation. While the research may more immediately lead to effective treatments for Swedish vallhund dogs, it may provide an important step towards treatments for blindness in humans as well.

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