Mastiffs could aid treatment of retinitis pigmentosa

ITHACA, N.Y. -- The English mastiff dog, a breed that sometimes carries the gene defect for the canine eye disease progressive retinal atrophy (PRA), has been revealed as a key animal model to help explain retinitis pigmentosa (RP) in humans. The dogs can be used to test possible therapies for the disease, according to researchers at Cornell University's Baker Institute for Animal Health and the University of Pennsylvania's Scheie Eye Institute. At least 100,000 people in the United States currently suffer vision loss and blindness from the disease.

The determination, which follows the recent Cornell discovery of the genetic mutation leading PRA blindness in the English mastiff, is reported in the April 30, 2002, Proceedings of the National Academy of Sciences (PNAS , Vol. 99 No. 9) as "Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa."

Although this gene defect leading to RP in humans was discovered in 1990 -- and could be simulated by genetic manipulation in mice, rats, fruit flies and pigs -- vision researchers had been searching for a large animal in which the inherited disease occurs naturally. They found that model in English mastiffs, the huge-but-gentle canines that sometimes inherit the gene defect for a particular form of PRA.

One result of the discovery is a new genetic screening test to help dog breeders eliminate the defective gene from their lines of the purebred dogs. In the meantime, Cornell researchers are continuing studies on dogs with the defective gene -- the RHO gene -- in hopes of answering a key question for both dogs and humans: What epigenetic (non-genetic or environmental) factors cause the blinding disease to progress slowly in some individuals, more rapidly in others and not at all in the lucky few who evidently have the gen

Contact: Roger Segelken
Cornell University News Service

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