Chemistry professor John R. Engen along with Professor Timothy Springer of Harvard Medical School are making inroads in helping people born with Spinal Muscular Atrophy (SMA), a rare, and often fatal, genetic disorder.
“Myostatin (also known as GDF8) is a key signaling protein that contributes to the regulation of muscle mass and function,” writes Scholar Rock. “Initially produced by muscle in a latent inactive form, myostatin can be activated under certain conditions by sequential enzymatic steps. For the first time, the new study provides an understanding at the molecular level of the structural changes that take place in the protein during this activation process, and the central role of the tolloid enzyme in generating active myostatin.”
