Medical Research Council - London Institute of Medical Sciences

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Hint Hunting
27 May 2014

Hint Hunting

Researchers are looking for clues to help unravel the mystery of how some muscles become damaged by genetic disease. Charcot-Marie-Tooth (CMT) is the most common solely inherited disease. It’s caused by mutations in genes that make the proteins that are the building blocks of our muscles. CMT patients suffer from weakness and numbness of the arms, legs and feet. However, there are few treatments beyond physical therapy. Looking at the muscles of a type of mouse that will develop CMT, the team found that neuromuscular junctions (pictured) in the feet weren’t developing properly. These are relay stations for nerve fibres (in green) carrying information from the brain to receptors in the muscle (shown in red). Since the mice were not yet showing symptoms of CMT, this growth defect could be an early sign of the disease. Future drug therapies could target this region to help prevent eventual muscle damage.

Written by Gaëlle Coullon

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