Life Science and Medical News from Around the Globe
Blinding Ciliopathy Diseases in Canines and Humans Share Causative Mutated Gene & Pathology
Ciliopathies are diseases that affect the cilia, sensory organelles that most mammalian cells possess and which play a critical role in many biological functions. One such disease is Senior Løken Syndrome, a rare condition that can involve both a severe kidney disease and the blinding disease Leber congenital amaurosis (LCA). A decade ago, researchers from the University of Pennsylvania, together with colleagues, identified a dog with a similar blinding condition, and in 2013 they reported the causative mutated gene, NPHP5. Now the Penn scientists report that they’ve directly compared the disease course between humans and dogs and found remarkable similarities. Given the crucial role that animal models play in pushing disease therapies forward, the researchers are optimistic about developing therapies that treat the condition first in dogs, and eventually in people. “When we started characterizing the disease, we found striking similarities between a subset of human patients with LCA and dogs with this mutation,” said Gustavo D. Aguirre, V.M.D., Ph.D., a co-senior author and Professor of Medical Genetics and Ophthalmology at Penn’s School of Veterinary Medicine. “We’re very enthused about the potential to narrow down a therapeutic window for this disease and begin testing translational therapies.” The new research was published online on August 9, 2016 in the journal Human Molecular Genetics and the article is titled “Overlap of Abnormal Photoreceptor Development and Progressive Degeneration in Leber Congenital Amaurosis Caused By NPHP5 Mutation.” When the Penn team helped discover the ciliopathy in dogs, they noticed something unusual. “What is striking about the canine disease is that although the dogs lack functional vision in daylight,” said Dr.