Medical Research Council - London Institute of Medical Sciences

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Mutant Muscle
21 July 2012

Mutant Muscle

This may look like one of Spiderman’s enhanced muscles, strong enough to propel him to the top of a nearby building in a single bound. But in fact this image depicts a mutation with quite the opposite effect. These cells, from a skeletal muscle of a genetically mutated mouse, are very weak. Artificial colours highlight the cytoplasm (red) and membrane (green) of the cells under a microscope. Each cell nucleus (black dot) is central rather than at the edge of the cell membrane where it should be in muscle tissue. This rare condition, known as ‘centronuclear myopathy’ is caused by the mutation of just one gene, called Srpk3, which prevents the muscle from developing properly. Learning more about rare genetic mutations in mammals has direct benefits for us. One in 50,000 children is born with centronuclear myopathy and there is currently no cure.

Written by John Ankers

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