Research roundup: Is there a genetic mutation associated with canine limb-girdle muscular dystrophy?

In a recent study, scientists found a correlation between limb-girdle muscular dystrophy (LGMD) and a mutation in the sarcoglycan A subunit gene (SGCA) in miniature dachshunds. Muscular dystrophies (MD) are hereditary degenerative diseases. Scientists know that mutations in the dystrophin gene (DMD) in humans result in either the milder Becker type MD, or the more severe Duchenne type MD. Several well-described forms of muscular dystrophy are found in domestic dogs, with many DMD genetic mutations reported to cause symptoms that closely mirror human symptoms. Scientists have long studied a DMD mutation in golden retrievers and used them as a model for testing new treatments for Duchenne type MD in humans. Until now, no genetic mutations behind LGMD in dogs had been found. A team of researchers led by James Mickelson, MS, PhD, have identified the first mutation in the SGCA gene in young adult miniature dachshunds that leads to a form of LGMD with clinical signs that resemble those in humans with this type of muscular dystrophy. The researchers say that finding the first SGCA mutation in dogs helps progress scientific understanding of the genetics behind canine muscular dystrophies, which helps clarify their role as models for improving outcomes for human patients.

Read more in the paper published January 7 in Skeletal Muscle.

Photo by James Mickelson