Medical Research Council - London Institute of Medical Sciences

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Charcot-Marie-Tooth Disease Awareness Month At This Junction
09 September 2017

At This Junction

It takes a fraction of a second to tell our legs to push or kick. Electrical signals zap into our muscles at neuromuscular junctions, similar to the ones shown in red in this mouse muscle. Fluorescence microscopy also highlights the mouse’s motor neurons (green) as they bring signals from the central nervous system, supported by chemicals from surrounding blood vessels (purple). This mouse has a mutation in a gene called GARS, also found in a human nerve disorder called Charcot-Marie-Tooth disease type 2D (CMT2D). It was believed that this mutation causes nerve damage (neuropathy) and muscle weakness by preventing the nurturing blood vessels developing properly. Yet the vessels in this mouse are healthy. This might seem like a deeper mystery. But now scientists know the GARS mutation causes problems specifically in the nervous system – a vital step towards better understanding and treating CMT2D.

September is Charcot-Marie-Tooth Disease Awareness Month

Written by John Ankers

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