Ribosome associated proteins as the next-generation therapy for Spinal Muscular Atrophy

Spinal Muscular Atrophy (SMA) is a genetic disease caused by mutations in a specific gene that affects the survival of motor neurons. Current treatments for SMA have limited effectiveness, for this reason researchers are working to develop new therapies that can cure the disease. Preliminary research has shown that the SMN protein is associated with the cellular machinery that produces proteins: the ribosome. This association is lost in SMA causing defective protein production. We found additional proteins tightly collaborating with SMN in protein synthesis. One approach being investigated here is to leverage the expression of one or more of these proteins to correct protein synthesis deficiency in SMA. The researchers plan to obtain proof of principle that this approach successfully corrects these defects in cell models of disease and in patient fibroblasts. The ultimate goal is to develop new therapies for SMA by targeting the protein synthesis as underlying mechanisms of the disease.