Motor Neuron Disease/Amyotrophic Lateral Sclerosis
Motor neuron diseases are a group of neurodegenerative diseases that selectively affect motor neurons leading to spasticity, muscle wasting and ultimately paralysis. Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease. Whilst the majority of ALS cases are sporadic, some (approximately 10%) are familial. A number of genes have now been identified that are causative for these familial forms including Cu/Zn superoxide dismutase-1 (SOD1), vesicle-associated membrane protein-associated protein B (VAPB), ALS2/Alsin, Tar DNA binding protein-43 (TDP-43) and FUS/TLS. Members of the MRC Centre for Neurodegeneration Research (including staff in the Departments of Neuroscience and Clinical Neuroscience) have been involved in the identification of some of these genes including TDP-43 and FUS/TLS. Work is currently underway to help understand the mechanisms by which these mutant genes induce disease. Our approaches include transgenic modelling in both mice and flies, and investigations into pathological processes. These latter studies are aimed at determining how mutant genes might perturb signal transduction processes, protein trafficking and axonal transport, and mRNA metabolism. Novel therapeutic approaches for treating ALS are also being studied.
Staff working on this disease include:
Noel Buckley
Frank Hirth
Chris Miller
John Powell