French and German researchers have discovered a promising protein link to a form of muscular dystrophy that affects the voluntary muscles around the hips and shoulders, according to a study released Wednesday.
They determined that people with limb-girdle muscular dystrophy are missing the c-FLIP protein that prevents muscle tissue loss.
They also discovered that the body's production of c-FLIP is controlled by another protein, Calpain-3, giving them more insight into the causes of limb-girdle muscular dystrophy.
They hope the findings of their research will lead to the development of new treatments to stop muscle wasting from the disease, they said.
The researchers said the discovery could also have implications for other types of muscular dystrophy and other situations involving the death of muscle tissue, such as long-term immobilization, denervation, aging, or cachexia.
"Unfortunately, rare diseases like limb-girdle muscular dystrophy don't get the attention or funding they deserve," said Gerald Weissmann, editor-in-chief of the FASEB Journal, which published the research Wednesday.
"Fortunately," he added, "this study should provide researchers with a much-needed target for developing drugs to treat at least one of these conditions."
According to the US Muscular Dystrophy Association, limb-girdle muscular dystrophy is caused by mutations in at least 15 genes responsible for making proteins needed for normal muscle function.
As the disease progresses, people with limb-girdle may lose their ability to walk, get in and out of chairs, comb their hair, and feed themselves.