Medical Research Council - London Institute of Medical Sciences

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Muscle Power
16 February 2017

Muscle Power

Muscles are the powerhouses of the human body. To take just a single step, around 200 of your muscles will be put to work. The disease FSHD targets these powerhouses, weakening them to the point that a fifth of patients end up wheelchair bound. The disease is caused by the inappropriate presence of the protein DUX4. Researchers investigated what DUX4 is up to in developing muscle cells from humans (pictured) and mice. Normally these cells turn into mature muscle cells bearing the muscle proteins myogenin (green), desmin (red) and myosin heavy chain (grey). Increasing the amount of DUX4 in these developing cells increased the levels of an enzyme called Ret. Ret stopped the cells developing into mature muscle. Adding a drug to block the activity of Ret allowed these cells to mature normally. This drug may therefore someday be useful in treating FSHD.

Written by Lux Fatimathas

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