Nick Menhart, associate professor of biology at the Illinois Institute of Technology, was awarded an MDA research grant totaling $265,251 over a period of three years to study the properties of modified dystrophin proteins in Duchenne (DMD) and Becker (BMD) muscular dystrophies.
"One of the leading near-term prospects for meaningful treatment of DMD is exon skipping," Menhart said, in which cellular machinery cuts out flawed genetic instructions during protein synthesis, allowing for the production of shortened but at least partially functional dystrophin protein. (Deficient levels of dystrophin protein are the underlying cause of DMD and BMD.)
There are alternative ways to skip portions of the dystrophin gene to effect the repair achieved with exon skipping. Each produces differently modified proteins, having different properties that, in turn, make them better or worse repairs.
Menhart and colleagues plan to characterize different "repaired" versions of dystrophin protein in an attempt to determine which are superior and which will be "maximally effective," in any given person, based on their specific genetic defect.
"This is clearly an exciting and even inspirational time in muscular dystrophy research, as exon skipping holds promise as perhaps a truly effective treatment for DMD," Menhart said. "A number of issues remain in translating this to a clinical setting, but so far … the outlook is good."
Funding for this MDA grant began February 1, 2012.