A team of scientists from Harvard said that they have discovered a treatment for SMA or spinal muscular atrophy using a common drug. SMA is the most common neurodegenerative disease that affects children under two years old.
According to statistics from the Gwendolyn Strong Foundation, an organization that does research on SMA, spinal muscular atrophy kills more children than other similar genetic diseases. Moreover, it occurs in 1 out of 6,000 births while 1 out of 35 people carry this gene without any knowledge that they have it until it manifests in their family.
SMA happens because an important protein called survival motor neuron or SMN is missing. Because of this, the body is unable to produce the protein that is essential to motor neurons. The lack or absence of this protein can cause the spinal cord to degenerate and the cells to die away.
However, scientists from the Harvard Stem Cell Institute or HSCI said that they have discovered a compound that helps stabilize the SMN neurons in both the lab rats and human subjects. This is the first time somebody has done this because, in the past, scientists only aimed to develop SMA therapies.
That compound is an enzyme called GSK3b which controls the stability of the SMN in the cells. The cells that have been degraded by this enzyme are going to the path of degradation. According to Natalia Rodriguez-Muela, the co-author of the study said that they were able to discover this enzyme in 2011 after observing that some SMA-affected motor neurons survived while others died quickly. Furthermore, they also looked at the Cullins, a family of protein that helps regulate protein degradation.
Those that survived turned out to have very high levels of SMN. They had the same results when they got cells from amyotrophic lateral sclerosis or ALS patients leading the scientists to conclude that the more SMN levels there are in each cell, the more likely they will survive.
What they did was use a compound known to block the Cullin to stop it from degradation. They also found out that the more the SMA-affected cells are exposed to the compound, the number of SMN increases and become more stable
