Researchers at the University of Rochester Medical Center (URMC) have identified a compound that eliminates myotonia—a symptom of muscular dystrophy—in mice. The study was published online in the Journal of Clinical Investigation.
Rochester scientists were able to design a synthetic RNA-based molecule that, when injected into mice with myotonic dystrophy, restored a critical cellular mechanism, or pathway, that controls electrical activity in muscles. In people with the disease, this function is essentially disabled and muscle cells cannot relax properly. The researchers found that once this pathway was re-established normal muscle function returned.
“The significance of this work is the proof of concept that a fundamental aspect of this genetic disease can be reversed even after it is very well established,” said Charles Thornton, M.D., co-director of the URMC Neuromuscular Disease Center and senior author of the study. “It encourages us to believe that other parts of the disease could be reversible as well.”
The Rochester team, working with the biotechnology company Gene Tools, created a synthetic RNA-based compound that restores the proper genetic instructions for building the chloride channel. When this compound, called a morpholino, was injected into the muscle cells of a set of mice with myotonic dystrophy the chloride channel was restored and the myotonia all but disappeared and did not return for several weeks.
Release date: November 15, 2007
Filed Under: Drug Discovery