MDA has awarded a research grant totaling $330,000 over three years to Maria Pennuto at the Italian Institute of Technology in Genova, Italy. The funds will help support Pennuto's continued studies of the molecular mechanisms underlying spinal-bulbar muscular atrophy (SBMA).
The mutation responsible for SBMA is in the gene for the androgen receptor protein.
Pennuto plans to test the hypothesis that activation of a particular molecule called protein kinase A will reduce accumulation and toxicity of the mutant androgen receptor and help protect the spinal cord in SBMA.
The project capitalizes on results obtained in the last three years from another project supported by MDA.
In that work, Pennuto and colleagues identified another protein kinase that confers protective effects on SBMA-affected skeletal muscle.
The team will use cellular models as well as mouse motor neuron cells and mouse models that express the mutant protein and mimic crucial features of the disease.
"The unique support of MDA has allowed us to pursue the investigation of the molecular mechanisms of SBMA," Pennuto said, noting that she and her research team can use what they've learned to help develop therapeutic approaches for SBMA and other motor neuron diseases.
Funding for this MDA grant began August 1, 2011.