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Researchers Progress Towards Duchenne Muscular Dystrophy Treatment

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Duchenne Muscular Dystrophy Treatment

A research team from Duke University, in the United States, managed to repair the mutation of a gene responsible for the onset and development of DMD (Duchenne muscular dystrophy). For their study, the researcher used cellular samples taken from patients suffering from DMD. Rather than using gene therapy in order to repair the genetic mutations, the research team from Duke created a novel technique that is able to change the mutated gene into a healthy gene. The study was recently published in the online journal Molecular Therapy.

According to the research team, this new technique might prove to be safer and more stable than any current genetic therapy method. Currently, they are conducting several other tests on animal models with DMD. DMD is a genetic muscular disorder which affects 1 in almost 3,600 male newborns. The genetic mutation responsible for the disease is located on the X chromosome, meaning that there is only one copy of the mutation. Scientists presume that females have a healthy copy of the gene, thus only rarely exhibiting the symptoms of the disease.

Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy

The gene affected in DMD is called dystrophin gene. It regulates the production of dystrophin, a protein that is essential for the structural integrity of the muscle fibers. Due to the lack of dystrophin protein, patients with DMD suffer from a gradual deterioration of their muscles, which eventually leads to paralysis and even death. Patients with DMD most often die before the age of 25. Charles Gersbach, an assistant professor at Duke affirms that current genetic therapies focus on adding healthy genes in order to stop the expression of the mutated genes. However, this approach can sometimes cause unforeseen problems.

“Our approach actually repairs the faulty gene, which is a lot simpler”, said David Ousterout, a graduate student from Gersbach’s laboratory, and the leader of the study. He explained that the newly developed technique finds the faulty gene and the repairs it in order to recover its initial functionality. The technique consists in synthesizing proteins known as TALENs (transcription activator-like effector nucleases). These are artificial enzymes capable of altering most of the genetic sequences found in the DNA. TALENs bind to the faulty gene and correct its defect, thus recovering its normal function. According to professor Gersbach, there are no known treatments for DMD at this time. “Patients usually are in a wheelchair by the age of ten and many die in their late teens or early twenties”, he added.

DMD has been intensively studied by researchers from around the world. The currently developed technique is believed to be capable of treating more than 60% of DMD patients. According to Ousterout, precedent studies have revealed that some DMD symptoms were alleviated when dystrophin protein levels were raised through other techniques. Professor Gersbach concluded that if the technique proves to be able to treat DMD, it could be used to treat other genetic diseases, such as hemophilia or drepanocytosis.