Investigating metabolic dysfunction as a driver of Motor Neuron Disease

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Significant research efforts have increased our understanding of the cellular dysfunction that underpins ALS pathology, but we have much to learn. Recent findings suggest that metabolic defects play an important role in the onset and progression of ALS, offering the tantalising prospect of new avenues to therapy. We have developed a rapid high throughput yeast model of ALS that enables us to probe the metabolic nature of cellular toxicity associated with defects in the protein Superoxide dismutase 1 (Sod1). Mutations in Sod1 lead to familial ALS and are also linked to sporadic forms of the disease. The project will establish the metabolic defects associated with Sod1 mutations found in ALS patients at high resolution using the yeast system and translate these findings into human cells isolated from ALS patients. The project is multi-disciplinary and offers training in a wide range of cutting edge cell biological, microbiological, computational and biochemical techniques within the labs of Dr. Campbell Gourlay (Kent) and Prof. Majid Hafezparast (Sussex). The outcomes of this research will lead to a significant increase in our understanding of the metabolic dysfunction associated with ALS.