Screening more than 300,000 small molecules, scientists have identified a way to ‘turn off’ the defect behind myotonic dystrophy type 1.

Writing in Nature Communications, investigators from The Scripps Research Institute (TSRI) in Jupiter, FL, identify small molecules that inhibit a critical RNA-protein complex in the disease.

Narrowing the hundreds of thousands of targets down into those that bound RNA or protein, or had unknown function, the team zeroed in on RNA-binding compounds, which in their human muscle tissue studies appeared to cause signs of disease remission.

“This is the first example I know of at all where someone can literally turn on and off a disease,” TSRI’s Matthew Disney, Ph.D., said in a statement. “This easy approach is an entirely new way to turn a genetic defect off or on.”

Dr. Disney added that his team’s finding lays a foundation for future investigations of myotonic dystrophy at the molecular level. The RNA-binding small molecules, he noted, are not ready for clinical use just yet.

“In complex diseases, there are always unanticipated mechanisms,” he said. “Now that we can reverse the disease at will, we can study those aspects of it.”

The team’s next steps are to better learn how to control RNA splicing using small molecules, which could have implications for other diseases, from sickle-cell to cancer.

“Induction and reversal of myotonic dystrophy type 1 pre-mRNA splicing defects by small molecules” was published June 28 in Nature Communications.

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