Constanza Cortes, a postdoctoral researcher at the University of California, San Diego, was awarded an MDA development grant totaling $177,410 over a period of three years to study the role of a cell recycling system in spinal-bulbar muscular atrophy (SBMA or Kennedy disease) and amyotrophic lateral sclerosis (ALS).
Both SBMA and ALS are characterized by the death of motor neurons, the nerve cells that control movement. Their causes are different, but in both diseases, there are defects in autophagy, a process cells use to break down and recycle large proteins and other cellular substances. Autophagy is critical for cell health, but relatively little is known about the process in neurons, Cortes says. She will be using both light microscopy and electron microscopy to examine how the function of one regulator of the process — a protein called TFEB — may be altered by interaction with the mutant protein that causes SBMA.
Working with cell culture, mouse models and cells from patients, Cortes says, “We expect to develop autophagy-intervention therapeutics and test these approaches in our mice, to determine the feasibility of manipulating autophagy as a therapeutic strategy for neuromuscular diseases. In this project, I hope to demonstrate the importance of neuronal autophagy for neuromuscular disease, and advance the field in ways that will benefit patients suffering from these debilitating disorders.”
Funding for this MDA grant began August 1, 2013.