MDA awarded a research grant totaling $272,974 over a period of two years to Salvatore DiMauro, the Lucy G. Moses Professor of Neurology at Columbia University Medical Center in New York. The funds will help support DiMauro’s research into developing a therapy designed to treat neutral lipid storage disease with myopathy (NLSDM), a mitochondrial myopathy.
NLDSM is a lipid storage myopathy. The genetic cause of the disease is mutations in the PNPLA2 gene, which carries instructions for ATGL, an enzyme (type of protein) that normally sticks to cellular “fat storage compartments” called lipid droplets and breaks down the more complex lipids, such as triglycerides, into simpler fatty acids. These fatty acids are then used by mitochondria — the “energy factories” that provide the power required for cells to perform their functions.
“We have been following for five years an 18-year-old woman with well-documented NLSDM, who is still totally asymptomatic although her muscle and cultured skin fibroblasts [immature cells that will develop into fibrous tissue] are loaded with triglyceride droplets,” DiMauro said. His team also has obtained cultured fibroblasts from four symptomatic patients with PNPLA2 mutations.
In cultured cells, DiMauro and colleagues plan to test the ability of compounds called beta agonists to reduce the abnormal triglyceride storage, with the ultimate goal of applying one of the strategies to their patients.
If favorable results are obtained, the investigators plan to conduct a one-person trial in their “pre-symptomatic patient,” followed by an international controlled trial.
Funding for this MDA grant began February 1, 2012.