The most common genetic cause of death in young children is a neuromuscular disease called spinal muscular atrophy (SMA). While the disease is known to result from mutations in a single gene - SMN1 - the mechanisms by which a lack of SMN1 protein causes SMA's degenerative symptoms are still poorly understood. Survival of patients is dependent on the amount of SMN1 protein present in the body so elevating those levels could lead to an effective treatment. Recent work from HSCI Executive Committee Member Lee Rubin used an image-based method to screen for molecules that increase SMN1 protein levels in the body. Through this method, the team identified a signaling pathway crucial to the maintenance of SMN1 protein levels. The pathway consists of a series of chemicals that not only allows for increased SMN1 protein levels, but also blocks cell death in low SMN1-level conditions. Affording a keener understanding of SMA biology, this research also presents a potential future treatment strategy for SMA patients.

Makhortova, N.; Hayhurst, M.; Cerqueira, A.; Sinor-Anderson, A.; Zhao, W.; Heiser, P.; Arvanites, A.; Davidow, L.; Waldon, Z.; Steen, J.; Lam, K.; Ngo, H.; Rubin, L. (2011) A Screen for Regulators of Survival of Motor Neuron Protein Levels Nature Chemical Biololgy 7, 544-552.