MDA has awarded a research grant totaling $346,500 over three years to Antoni Barrientos, an associate professor in the departments of neurology and biochemistry and molecular biology at the University of Miami (Florida) Miller School of Medicine. The grant will help support Barrientos' study of the underlying molecular mechanisms in some forms of mitochondrial myopathy.

In the mitochondrial myopathies, commonly caused by the deficiency of an enzyme called cytochrome c oxidase (COX), cellular energy production is severely compromised, affecting brain, muscle and other organs with high energy demands. A complete understanding of COX synthesis is essential for uncovering the molecular basis underlying these diseases.

Barrientos and colleagues recently identified in a yeast research model two "chaperone" proteins responsible for helping assemble the COX enzyme.

Now, Barrientos plans to study the human equivalents of the two yeast proteins to determine whether their functions in humans are comparable. To do this, his team will use a gene silencing technique to "turn off" the genes that carry instructions for production of the chaperones, essentially inhibiting the proteins' production and enabling the investigators to identify what happens (or what doesn't happen) in their absence.

Barrientos' previous MDA-funded work has resulted in significant contributions to scientists' understanding of factors involved in COX assembly and regulation of the COX biogenetic process. Now, findings from his new work potentially may lead to therapeutics based on targeting the genes that carry instructions for the two COX assembly chaperones.

"MDA support is extremely important to our laboratory," Barrientos said, adding, "I have been working on cytochrome c oxidase assembly for the last 12 years, beginning with my postdoctoral studies at Columbia University, always with the support of MDA."

Funding for this MDA grant began February 1, 2011.