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
BPoD stands for Biomedical Picture of the Day. Managed by the MRC Laboratory of Medical Sciences until Jul 2023, it is now run independently by a dedicated team of scientists and writers. The website aims to engage everyone, young and old, in the wonders of biology, and its influence on medicine. The ever-growing archive of more than 4000 research images documents over a decade of progress. Explore the collection and see what you discover. Images are kindly provided for inclusion on this website through the generosity of scientists across the globe.
BPoD is also available in Catalan at www.bpod.cat with translations by the University of Valencia.