A MERTK gene defect responsible for a recently identified form of progressive retinal atrophy in Swedish vallhund dogs has been discovered. This discovery opens the door to the development of therapies for diseases that cause blindness both in dogs and humans.(10.1371/journal.pone.0111941)
Inherited retinal diseases are among the leading causes of incurable blindness in humans as well as in dogs, where most of these conditions are classified as progressive retinal atrophy (PRA). Because of the similarities in ocular anatomy, canine models contribute significantly to the understanding of retinal disease mechanisms and the development of new therapies for human patients.
The gene identified as a cause of PRA in the Swedish vallhund is associated with a form of human retinitis pigmentosa (RP), one of the most common incurable blindness worldwide.
The teams has published three papers, each on Nordic dogs (Swedish Vallhund and Norwegian Elkhound) and each addressing blinding ocular diseases affecting both dogs and people, identified genes causing retinal disease and glaucoma, which may lead to gene therapies for dogs and humans.
“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”, explains Professor Hannes Lohi of the University of Helsinki.
Future studies will include the search for the regulatory mutation and study of overexpression-related disease mechanisms with a possibility for a therapeutic option with MERTK inhibitors. Meanwhile, a genetic marker test can be developed to revise breeding programs to reduce the frequency of this disease in the Swedish vallhund breed.
Source: Helsingin yliopisto (University of Helsinki)