Umrao Monani, associate professor at Columbia University Medical Center in New York City, was awarded an MDA research grant totaling $300,000 over a period of three years to study how junctions between neurons and muscle are affected in spinal muscular atrophy (SMA).
SMA is due to a gene mutation that causes a deficiency in a protein called SMN. Without it, the nerve cells that control muscles, called motor neurons, die off and muscles weaken. One of the first effects of lack of SMN is seen at the neuromuscular synapse, the place on the surface of the muscle where the motor neuron contacts it and sends its signal to control muscle contraction.
“We are interested in investigating the role of SMN in the formation, function, maintenance and repair of these structures,” says Monani. “We will use model mice, in which defects of the neuromuscular synapses become apparent when the SMN protein is depleted, to determine how SMN might shape synaptic structure and function.
"By examining molecular changes that occur normally in the motor neurons and muscle as the synapses mature, and by looking for differences when SMN is reduced, we hope to identify specific mediators of the SMA disease process. Understanding how low SMN levels translate into a disease that affects the motor system is not only of enormous scientific interest but is also likely to teach us how best to effectively treat SMA and other diseases of the motor neurons,” he says.
Funding for this MDA grant began August 1, 2013.