Muscular Dystrophy Discovery Offers Hope for New Treatment

Muscular Dystrophy Discovery Offers Hope for New Treatment

Muscular dystrophy currently has no cure, but researchers are working hard to change that fact. One such effort has come from the University of Missouri, where researchers have made a discovery about the muscular dystrophy gene that could offer hope for new treatment.

What is the muscular dystrophy discovery?

A research team has uncovered an important finding regarding Duchenne muscular dystrophy (DMD), which is the most common form of the disease among children. DMD affects mostly males and occurs among approximately 1 in 3,500 to 1 in 6,000 male births.

Scientists have now identified an important sequence in the gene that makes dystrophin. Dystrophin is a protein that is necessary for muscle cells to function, repair themselves, and thrive.

Both DMD and Becker muscular dystrophy (a milder form of the disease, affecting about 1 in 18,500 male births) are associated with mutations in the dystrophin gene. If dystrophin production is deficient or stopped, muscles deteriorate over time, eventually resulting in an inability to move and in many cases, death from respiratory failure or heart failure around the age of 30.

Dystrophin needs several other factors to help it support and maintain muscle tissue. One of those factors is nNOS, a substance that produces nitric oxide and is important during exercise. Until now, scientists did not understand the special relationship between dystrophin and nNOS, but now they do, and that’s a significant discovery.

According to Yi Lai, PhD, one of the study’s authors, “Now that we have that key, we hope to begin the process of developing a therapy for patients.” Part of that key is that two sections of the dystrophin gene are critical because they have a “claw” that can grab nNOS and carry it to the muscle cells, which in turn prevents muscle damage.

Individuals who do not make dystrophin also do not have the necessary claw to grab nNOS. For some time, researchers have been attempting to find how to prompt the body to manufacture dystrophin. Again, Missouri University scientists have made a discovery.


They have used another protein called utrophin, which is similar to dystrophin, except it does not have the necessary section with the claw to attract nNOS. The scientists modified utrophin so that it has the claw, and they have experimented successfully with the modified utrophin in mice.

Study author Dongsheng Duan, PhD, who is a Margaret Proctor Mulligan Distinguished Professor in Medical Research at the University, explained that “if we can do the same thing in larger animals, we could eventually have a therapy for humans with this devastating disease.”

How is Duchenne muscular dystrophy treated now?
Muscular dystrophy is a general term for more than 30 inherited diseases that cause the loss of muscle and muscle weakness. Each type is associated with specific genes and differs in the muscles that are affected.

Since there is no cure for Duchenne muscular dystrophy, doctors can only treat symptoms. Treatments include stretching and other exercises to help prolong muscle function, steroids (which can slow muscle damage), use of braces, splints, and lifting devices, and surgery to prolong the ability to walk.

Because DMD affects heart and respiratory muscles, patients typically need medications to treat heart problems and to prevent pneumonia. Some patients with DMD require breathing assistance, and if swallowing is affected, a feeding tube may be necessary.

The search for effective treatments for this devastating disease continues in facilities around the world. Scientists at Missouri University have made a significant discovery regarding muscular dystrophy, offering some hope for new treatments.

Centers for Disease Control and Prevention
Missouri University

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