Background to my research
I am doing research into a disease called Duchenne muscular dystrophy. Muscular dystrophies are a group of diseases that effect the muscles of your body. Duchenne is the most common form of muscular dystrophy. It is caused by a mutation in the DMD gene, which carries the instructions for making a protein called dystrophin. Mutations are errors in the gene, so the protein cannot be made properly. Proteins are important components of our bodies, required for the structure, function and regulation of cells, tissues and organs (for example muscles, lungs, kidneys). Dystrophin has an important role in muscles, acting as a shock absorber to prevent damage to the muscle when it contracts during movement.
Muscles are made up of many bundles of muscle cells, which are tubular in structure (see diagram below). Dystrophin can be found at the membrane of muscle cells. The membrane is a protective layer which surrounds each cell.
Dystrophin acts as part of a group of proteins (see diagram above). These proteins work by anchoring the structural network inside the cell (shown in orange) to the outside environment.
When dystrophin is absent, the protein scaffold is lost from the membrane.This means that the muscle can be damaged more easily during contractions and leads to the muscle weakness and wasting seen in Duchenne muscular dystrophy.
What am I aiming to do with my research?
Preventing the loss of the other proteins in the scaffolding complex from the membrane may restore some stability to the muscle, even when dystrophin is not present. I am trying to stop the loss of one of these proteins called dystroglycan (in blue on the diagram). Dystroglycan is able to form links with other proteins, which may be able to compensate for the loss of dystrophin. I am investigating whether this could have potential as a future therapy for Duchenne muscular dystrophy.
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