Myotonic Dystrophy Discoveries Provide Shortcut to Potential Treatment

Treatment Strategies
Since many of the biologic effects of the DM RNA repeat can be explained by loss of muscleblind protein function, he said, “this presents us with a very interesting scenario for development of treatment. Unlike in other genetic diseases, there is no essential component missing, and no mutant protein synthesized. Instead, we have a protein, muscleblind, that is mislocalized. We also have preliminary evidence that it is possible that some features result from functional defects that occur much earlier than irreversible cell degeneration, and that if we intervene earlier, we could induce recovery.”

Strategies might include decreasing the amount of mutant RNA or increasing the amount of muscleblind, but it may also be possible to simply inhibit their interaction. “That’s a plausibly tractable objective—just knock enough muscleblind loose so it can do its normal job.”

Preliminary tests of this strategy have given promising results. The outcomes from these initial proof-of-concept experiments indicate that freeing muscleblind from RNA is likely to provide significant clinical improvement for patients with myotonic dystrophy.