A study published online October 8th by the monthly journal ACS Chemical Biology reports that scientists have made “a key advance toward developing the first effective drug treatment for spinal muscular atrophy (SMA).”

SMA is an autosomal recessive neurodegenerative disease characterized by the dramatic loss of spinal motor neurons, resulting in muscle weakness, atrophy, and in the worst cases, the loss of ability to swallow and breathe. SMA occurs when a vital gene, the “survivor motor neuron” gene or “SMN” is deleted or mutated, preventing the creation of a protein necessary for muscle strength. Even though the key SMN gene is deleted, there is a second “copy” gene (the “SMN2″ gene) that continues to produce limited quantities of the SMN protein.

After screening hundreds of thousands of compounds, researchers are looking at C5-quinazolines as a potential method of increasing the SMN2 activity and thus the protein SMA patients lack. According to Jill Jarecki, Ph.D., Research Director at Families of SMA, “the results outlined in the paper and carried out in collaboration with Families of SMA, deCODE chemistry & biostructures, Invitrogen Corporation, and Rutgers University represent a new understanding of the physiological mechanisms that can increase SMN expression and will allow us to move forward in advancing potential treatments for it.”

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