Duchenne Muscular Dystrophy, or DMD, is a genetic disorder which causes the progressive increase of weakness in the muscles of an individual. Eventually the cell tissues die, which leads to the atrophy of the muscles. The disorder is caused by mutation in the DMD gene which codes for the production of the protein dystrophin. Dystrophin is one of the proteins that strengthens and protects muscle fibers as the muscle is contracted and relaxed.
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Above: Golden Retriever with DMD 3 months old Below: Golden Retriever with DMD 6 months old |
In San Diego, California a little golden retriever pup named Ringo would change what scientists previously thought about the disease. Ringo and the rest of his siblings were bred to inherit the gene for Duchene Muscular Dystrophy. All of the litter tested positive for the disorder except for Ringo. Unlike his litter mates, who "could barely suckle at birth", Ringo was completely healthy.
As DMD is an x-linked recessive trait, more males than females are affected. Studies by geneticist Natassia Vieira, from Boston Children's Hospital and Harvard University, revealed that Ringo had a second mutation that worked to counteract the effects of DMD. The second mutation causes an overabundance of the protein Jagged 1. Even though Ringo genetically has the gene for DMD it is not phenotypically expressed because extra Jagged 1 allows the muscles to repair themselves.
Original article: http://dogtime.com/dogs-genetics-and-muscular-dystrophy.html#
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