Grant: Operating Grant

Myoclonus dystonia (MD) is a debilitating neurological disorder where patients have abnormal movements. The disorder can be broken down into myoclonus, rapid muscle contractions and dystonia, which is a sustained twisting movements resulting in abnormal postures. There is no effective treatment for this disorder and this may be due in part to the fact that we know very little as to its cause. The following hyper link connects to YouTube, where examples of the disorder can be seen: http://www.youtube.com/results?search_query=myoclonus+dystonia&oq=myoclonus+dystonia&gs_l=youtube.3..0.5196.11172.0.11978.18.11.0.7.7.0.197.1325.5j6.11.0...0.0...1ac.1.Xy21LH3KBVw Symptoms usually begin before the age of 20 and 40% of the cases are due to mutations in the gene epsilon sarcoglycan. With the help of a large family afflicted with myoclonus dystonia we were able to identify a new gene. This gene belongs to a new class of genes called the long non-coding RNAs. The gene itself is an evolutionary new gene as it only exists in primates; humans, great apes etc. The proposal aims to determine the role of this new gene in healthy individuals as this gene is completely uncharacterized. At the same time we will determine the effects of the mutated gene. The work will be performed using a variety of human neuronal cell lines. By understanding the mechanism by which the mutation causes myoclonus dystonia we hope to identify biological pathways which may be targeted for treatment.