New treatment for Duchenne muscular dystrophy
Researchers at the University of Alberta have made a step forward in the research of Duchenne muscular dystrophy treatment. According to an article published in the journal PLoS ONE, it seems that researchers led by Toshifumi Yokota, a muscular dystrophy researcher in the Department of Medical Genetics, found a mutation that leads to regrowth of dystrophin protein.
Muscular dystrophies are diseases affecting skeletal muscle and gradually leading to weakness and inability of locomotion. Muscular dystrophies are inherited diseases ( X-linked diseases) that occur mainly in men. There are many forms of dystrophy: Duchenne, Becker, Emery-Dreifuss, mytonic, fascioscapulohumeral, oculopharingeal etc. Muscular dystrophies, it should be noted, do not affect only locomotion but also breathing, heart function, gastrointestinal tract etc.
Duchenne muscular dystrophy is an inherited disease caused by a mutation of the DMD gene and affects an average of 1 to 3,500 boys. The first symptoms usually appear in early childhood when the child begins to have difficulty in walking, running, climbing stairs, etc.. Progressive motility disorders occur also in the upper limbs, neck, head, diaphragm and by the age of 12-14 years, children with Duchenne muscular dystrophy are not able anymore to walk and end in a wheelchair. Skeletal abnormalities such as spinal deformity may also appear. Diagnosis is suspected based on signs and symptoms (difficulty in walking, etc.) and is confirmed by muscle biopsy and genetic testing. Muscle biopsy highlights the absence of dystrophin, a protein in muscle fibers, and genetic testing tells if there are mutations (deletions, duplications) in the DMD gene.
All these abnormalities (muscle weakness, chest deformity) lead to breathing problems and gradually many children with Duchenne dystrophy die from respiratory failure or due to cardiomyopathy. There is no cure for Duchenne muscular dystrophy; the treatment is intended only for increasing the survival and improving symptoms (devices to support breathing and corticosteroids to enhance muscle strength).
Toshifumi Yokota, who is a muscular dystrophy is a researcher in the Department of Medical Genetics, along with a team of scientists, discovered a mutation that causes a significant increase in dystrophin protein. They found that laboratory animals carrying this mutation had some unique muscle fibers associated with the regrowth of dystrophin. Yokota said that if they could find the mechanism by which dystrophin regrowths, this could be a therapeutic target for the treatment of Duchenne muscular dystrophy. He added that the discovery is promising but yet there are other research that must be conducted in this regard.
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