Cell biologists from the Radboud University Nijmegen Medical Centre (Nijmegen, the Netherlands) describe a new approach to remove the toxic agent that causes the neuromuscular disease myotonic dystrophy. Their findings are published in the scientific journal The Proceedings of the National Academy of Sciences.
Myotonic dystrophy, also called Steinert's disease, is a heritable, neuromuscular disease with an incidence of about one in 10,000. It is the most common muscular dystrophy in adults. Typical symptoms are delayed relaxation of muscles (myotonia) and muscle wasting (dystrophy). Other organs frequently involved in the disease are heart and brain. Currently, no cure is available. The Radboud University Nijmegen Medical Centre (RUNMC) is a reference centre for myotonic dystrophy in the Netherlands.
Toxic RNA
In 1992, researchers from the RUNMC were one of the groups who discovered the genetic cause of myotonic dystrophy. The disease is caused by an area in the DMPK gene that is larger than it should be. It was shown that the severity of the disease increases with the size of that expanded segment. DMPK RNA that is made as a copy of the expanded gene binds a number of important proteins in the cell and is subsequently trapped in the cell nucleus. As a result, cells, especially in muscle, heart and brain, will no longer function properly.