How the mutant molecules cause CMT according to scientists


We would like to draw your attention to this scientific study (CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase) issued in October 2015 by Nature.

According to Professor Samuel Pfaff, one of the principal authors of the article together with Professor Xiang-Lei Yang, this study solves a long time mistery: how the mutation of a gene can damage nerve cells (the ones carrying information from spinal cord to the muscles) causing several problems of sensory and movement.

This study (which is the result of a collaboration involving the Salk Institute and The Scripps Research Institute ) specifically concerns CMT type 2D due to the mutation of GARS gene, however, we think it might be helpful for a clearer understanding of other types of CMT as well, like for instance CMT 2A due to the mutation of MFN2 gene.

Charcot-Marie-Tooth is a very complicated disease whose variants are very different in their symptoms and genetic causes, but each type  has something in common: the neuropathy seriously harms the nerves of arms and legs.

The researchers have found how mutant molecules impaired the nervous system of people suffering from different kinds of CMT. An important discovery that fills us with hope because another step towards knowing a disease which is very rare has been taken. And that might be helpful for finding new therapy approach as well.

What do you think? Read the article (click on the blue title above) and let us know!

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