Scripps Research Scientists have studied the GARS gene in relation to Charcot-Marie-Tooth (CMT) disease type 2D ( which causes progressive weakness and wasting of muscles in the feet, legs, hands, and forearms by striking down the nerves that reach down into these muscles).
The disease can affect the production of glycyl-tRNA synthase, an enzyme important for protein production. However, sometimes the disease does not affect the enzyme's function so the researches looked for a common consequence of GARS mutations.
Using X-ray crystallography and small angle X-ray scattering (in solution) the scientists were able to see a common area of the GlyRS protein which opens creating a slightly different structure which other proteins can bind to. Any proteins which bind to the area could be toxic to nerve cells.
Causing a structural opening, can explain why it is an autosomal dominant gene.
Summary from: http://www.eurekalert.org/pub_releases/2011-07/sri-srs070111.php
Research into chemicals which could block the opening could help stop the symptoms of the disease. Also, other diseases could have a similar feature and so it could hold promise in those areas too such as ALS and the SOD1 gene.
