Page: << Prev | 1 | 2 "Presently there is no cure. There are some treatments that help manage symptoms. They're not highly effective," Thornton added. "The disease has been known for 100 years but, until about six years ago, hardly anything was understood about what causes muscle problems. Now there are detailed theories about what's going wrong. This was an attempt to test one of those to see if symptoms could be fixed."
Five years ago, Thornton's team showed that a genetic flaw leads to the overproduction of a certain type of messenger RNA (mRNA) in cells, which affects muscle control and other cellular functions.
The current study, published online Nov. 15 in the Journal of Clinical Investigation, focuses on myotonia.
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The researchers postulated that myotonia was caused by a problem with the pathway that electrical charges use to move in and out of muscle cells.
When researchers injected a synthetic molecule directly into the muscles of mice with myotonic dystrophy and then corrected the electrical control problem, the symptoms were eliminated.
"When a particular chemical imbalance in the muscle tissue was restored, it eliminated stiffness," Thornton said. "This would be a partial solution to the person's symptoms with myotonic dystrophy, but it's also proof of principle that once we identify the cause that it can be corrected."
Considerably more work is needed, however.
For one thing, scientists need to find a way to inject the compound into a person's bloodstream so a systemic effect would take place. Injecting into muscles spurs only a local effect. "That's one obstacle that must be overcome in getting wide distribution," Thornton said.
Safety issues also have to be considered before human trials begin, Cwik added.
"They are only looking at one symptom of myotonic dystrophy," she noted. "Would this therapy or kind of therapy, which can reverse or eliminate myotonia, have any effect on some of the other potentially more disabling symptoms? While it's encouraging, there are a lot of cautions and caveats."
More information
There's more on myotonic dystrophy at the Muscular Dystrophy Association.
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