Novel Treatment Gives Hope For Duchenne Dystrophy Patients
In a study led by researchers at the University of Melbourne Australia, scientists have discovered a new specific protein involved in Duchenne dystrophy that may help treat the disease.
The study, which was led by led by Professor Gordon Lynch, Head of the Department of Physiology at the University of Melbourne and conducted by Dr Stefan Gehrig for HIS PhD, and published in the journal Nature, shows a possible link between ‘heat shock protein 72 ‘(HSP72) and Duchenne dystrophy. During an animal research program, scientists have found that by increasing this protein in animal muscles not only the disease stops progressing but also the lifespan increases. One of the ways to increase the level of HSP72 is by using BGP-15. Researchers have found that this drug increases strength in limb muscles and diaphragm. Moreover, they also found that another effect of increased HSP72 is improving calcium pump function, which has an important role in contraction.
Duchenne muscular dystrophy is a degenerative progressive disease that affects boys, being an X-linked disease. Even if the disease is inherited, there are situations in which the dystrophy occurs without known cases in the family. The disease is caused by mutation of the gene encoding a muscle protein, dystrophin. In patients with Duchenne disease, there is no dystrophin in the muscles.
Symptoms usually appear in childhood, from age of 6 . Gradually patients begin to show weakness in the limbs and muscle loss occurs simultaneously. If symptoms appear early, children may have difficulty in walking, climbing stairs, etc.. Due to the muscle loss, muscles may be hypertrophied because normal fibers are replaced with fibrous connective tissue. Once first symptoms are installed, the disease progresses so quickly that at the age of 12 years, some patients lose the ability to work anymore and are immobilized in a wheelchair.
Muscle weakness affects not only the limb muscles, but also the diaphragm, which means respiratory failure. In addition,Duchenne dystrophy can cause enlarged heart, a process that occurs in nearly all patients after the age of 18 years. Most often, patients die before the age of 30 years.
Patients can be diagnosed in several ways. First, bilateral symmetrical muscle damage occurred in a child during early childhood (boy), with a family history of Duchenne dystrophy, is highly suggestive for Duchenne dystrophy. Regarding investigations, elevated creatine kinase and muscle biopsy with histopathologic examination confirm the diagnosis. In addition, genetic testing can be done with genome sequencing to detect DMD gene mutation.
Up to date, there is no cure for Duchenne dystrophy. Treatment is symptomatic and primarily aimed at improving cardiac and respiratory symptoms. However, research is promising. “We hope that these exciting findings will serve as the basis for future clinical trials within the next five to 10 years,” Professor Lynch said.