Learning about treating muscular dystrophy from an unusual golden retriever

Ringo was a golden retriever that defied the odds. Despite having the gene mutation for Duchenne muscular dystrophy (DMD), he remained healthy. And he’s provided a new lead for boosting muscle strength in DMD, one of the most common forms of muscular dystrophy. Unlike other dogs with the dystrophin mutation, who are weak and typically die by 2 years of age, Ringo was able to walk and run normally and lived to the age of 11, within the normal range for golden retrievers.

What made Ringo so resilient? A collaborative study by Boston Children’s Hospital, the Broad Institute of MIT and Harvard and the University of São Paulo in Brazil, published in Cell last week, found that he had a protective gene that boosts muscle regeneration, helping him “escape” the effects of the dystrophin mutation. His son Suflair has it too.

The Boston Children’s lab of Lou Kunkel, PhD, which has a collaborative research agreement with Pfizer, is now using a zebrafish model of DMD to screen for drugs with the same protective effect.

A dogged search

Natássia Vieira, PhD, a fellow in Kunkel’s lab from the University of São Paulo and first author on the Cellpaper, had been studying a colony of golden retrievers in Brazil that had the classic DMD mutation, which causes loss or dysfunction of the dystrophin protein, which helps hold muscle together. (Healthy dogs from the colony are trained as service dogs for children with muscular dystrophy.)

Ringo, aside from being surprisingly active, also proved adept at siring puppies — 49 with four different females. “When people would leave the door open he would run and mate,” Mayana Zatz, DSc, of the University of São Paulo and co-senior author on the paper with Kunkel, told Nature News.
Read the full post on Vector: An unusual dog, a new approach to muscular dystrophy: Stimulating a protective gene

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