Marilena D’Aurelio, assistant research professor at Weill Medical College of Cornell University in New York City, was awarded an MDA research grant totaling $300,000 over a period of three years to test whether dietary supplementation can be therapeutic in mitochondrial myopathies.
Several muscle diseases are caused by genetic defects in cell structures called mitochondria. Mitochondria produce the energy used by muscle cells for all their functions, including contraction. In patients with some forms of mitochondrial myopathies, D’Aurelio has found specific impairments in the ability of cells to process the amino acid glutamine, which contributes to the energy deficit. She also has developed evidence that bypassing this process improves the survival of these cells. She will now study the glutamine impairment in a mouse model of mitochondrial myopathy, and explore the possibility that bypassing it with a dietary supplement can be therapeutic.
“In mitochondrial diseases, the energetic defects preferentially affect tissues with high-energy demand,” D’Aurelio says. “Brain, nerves, muscle and heart are often impaired in the same patient, presenting difficult and challenging conditions for diagnosis and therapy. Attempts to treat mitochondrial diseases have been disappointing thus far, due mostly to the lack of defined targets.”
Her work will test whether the impairment in glutamine processing may offer a viable therapeutic target.
Funding for this MDA grant began August 1, 2013.