The therapeutic potential of targeting RNA

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Myotonic Dystrophy (DM) is the most common form of muscular dystrophy in adults. Symptoms include muscle weakness and wasting, cataracts, diabetes, and irregular heartbeat. DM is an inherited condition that exists in two forms: DM1 and DM2. Both are caused by a different piece of faulty DNA. Recent experiments point to a common mechanism underlying both forms of DM. In both forms of DM the faulty DNA is made into RNA but this gets stuck in the nucleus and can be seen down the microscope as spots in the cells of DM patients. We have shown that three particular proteins, called muscleblind proteins, are present in the spots in DM cells. We aim to develop methods to study the faulty RNA, which will allow the development of assays or tests for drugs to treat the disorder. It is possible that the methods developed here may be applied to other human disorders.