MDA has awarded a research grant totaling $219,000 over three years to Claudio Sette, associate professor for the department of public health and cell biology at the University of Rome Tor Vergata in Rome, Italy. The new funds will help support Sette’s study of the molecular mechanisms underlying spinal muscular atrophy (SMA).
SMA is caused by mutations in the SMN1 gene, which leads to a deficiency of the protein SMN (for "survival of motor neuron") and subsequent degeneration and death of the motor neurons in the spinal cord. Although SMN2, a gene almost identical to SMN1, is present in humans, it's unable to compensate for SMN1's loss due to differences in the two genes' protein-building instructions. With the exception of the case in which an occasional error may result in a functional or partially functional protein, SMN2-derived proteins are short, highly unstable, and for the most part nonfunctional.
Sette and colleagues intend to test a variety of ways to modulate the SMN2 gene, forcing it to mimic the SMN1 gene and process its protein-building instructions in such a way as to lead to the production of functional SMN protein and prevention of motor neuron degeneration and death. Results from Sette’s work should increase understanding of the molecular mechanisms responsible for SMA — in particular, the molecular defects responsible for motor neuron degeneration. In addition, the group’s studies may lead to new therapeutic approaches for treatment of the disease.
Funding for this MDA grant began February 1, 2011.