An RNA editing technique called “exon skipping” has shown preliminary success in treating a rare and severe form of muscular dystrophy that currently has no treatment. Children with the disease lose significant muscle strength early in life.
Originally developed to treat Duchenne muscular dystrophy, another form of muscle disease, exon skipping coaxes cells to “skip” over abnormal sections of the genetic code, so that the body can make a functional protein, which in this case, governs muscle function and development.
Many of the children with the disease are in a wheelchair in their teenage years.
“We recognize that this is version 1.0,” says Elizabeth McNally, director of the Center for Genetic Medicine at Northwestern University Feinberg School of Medicine. “But if this can stabilize individuals with this disease, even if it gave them 10 more years of walking, that’s huge.
“That would also mean 20 to 30 more years of breathing, and that is hugely beneficial for the patients and for their parents who are caring for them. And, of course, we’re interested in developing version 2.0 that will be even better.”
Limb girdle muscular dystrophy is caused by mutations in any of at least 15 different genes and affects 1 in 14,500 to 1 in 123,000 annually. The inherited disorder is found in patients around the world and is prevalent in France, northern Africa, and parts of South America.
Although children with the disease are able to live normally at young ages, over time their deteriorating muscles prevent them from engaging in a number of typical childhood activities. Many of the children with the disease are in a wheelchair in their teenage years.
The discovery stems from the persistence of Scott Frewing, a father whose two sons were diagnosed with a rare and severe form of muscular dystrophy, and his search for and partnership with McNally, former director of the Institute of Cardiovascular Research at the University of Chicago, which is where she began the research. She also is a physician at Northwestern Medicine.
Frewing is president of the Kurt+Peter Foundation, which is partnering with the University of Chicago and Northwestern University to develop therapies to treat the disorder.
“There are always new ways to treat a disease, and sometimes it is the patients and families who push us to think of these,” McNally says.
The National Institutes of Health supported the research. A paper about the findings appears in the Journal of Clinical Investigation.
Source: Northwestern University