MDA awarded $312,699 to Leo Pallanck, associate professor of genome sciences at the University of Washington, Seattle, for research into elimination of flawed cell machinery that is the underlying cause of mitochondrial myopathy.
Mitochondria, the tiny "power plants" responsible for producing nearly all of the energy needed for a human cell to function properly, have their own genes — stretches of DNA that carry the genetic instructions used in protein production. There can be hundreds of mitochondria in a single cell, and large cells with particularly high energy demands, such as skeletal and cardiac (heart) muscle cells, may harbor more than 10,000.
Mutated, or flawed, mitochondrial genes lead to flawed mitochondrial proteins that impair the ability of the mitochondria to produce energy and, by extension, the ability of the cell to function.
Recent studies have shown that have a pair of proteins known as PINK1 and Parkin can recognize damaged mitochondria and promote their destruction.
Pallanck and his research team aim to test the hypothesis that PINK1 and Parkin, in conjunction with other cellular factors, can detect and selectively destroy flawed mitochondria, thus alleviating the symptoms associated with mitochondrial mutations by keeping numbers of the defective mitochondria low.
In experiments on a fruit fly model, the investigators will vary the amounts of PINK1 and Parkin, and study the effects on the frequency of mitochondrial mutations and their associated symptoms, including degeneration of muscles and nerves. The work could lead to the development of strategies that can be used to reduce the overall amount of mutation-bearing mitochondria in humans.
"This is my first grant from the Muscular Dystrophy Association, and I cannot overstate the importance of this funding to our work," Pallanck said. "We couldn't perform these studies without support from the MDA."
Funding for this MDA grant began August 1, 2010.
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