Eric Schon, professor of neurology at the College of Physicians & Surgeons of Columbia University in New York, was awarded an MDA research grant totaling $405,000 over a period of three years to develop strategies for treatment of mitochondrial myopathies.
Mitochondrial myopathies are muscle diseases caused by defects in the mitochondria, subcellular structures that create energy from cellular fuel. Mitochondria contain their own DNA (mtDNA) and reproduce themselves within cells. In people with a mitochondrial myopathy, some mitochondria are mutated and function poorly, while others are healthy.
“There are no general therapeutic strategies to combat diseases involving mitochondrial DNA mutations,” Schon says. His group recently showed that in cells containing only mutated mtDNAs, it was possible to eliminate those mitochondria using rapamycin, a drug that stimulates the cell to degrade defective mitochondria. “We have now found that in cells containing a mixture of normal and mutated mitochondria, rapamycin dramatically increases the proportion of ‘good’ mitochondria and restores cellular bioenergetic function within only a few days.”
The implication of this finding is that inducing cells to selectively degrade their mutant mitochondria, paving the way for more reproduction by the good mitichondria, could be a promising method to treat mitochondrial myopathies.
Schon will explore this potential and study its mechanism, as well as search for other compounds with similar effects. “Using these approaches, we hope to gain insight, both practical and basic, into novel approaches to treat mitochondrial myopathies,” he says.
Funding for this MDA grant began Feb. 1, 2013.