What We Know:
Myotonic dystrophy is the most common adult onset muscular dystrophy. There is currently no available disease modifying treatment. Current theories hold that the genetic defect causes a toxic RNA, which accumulates in the nucleus of the cell and causes protein dysfunction by trapping proteins important for normal cell function. However, this may not be the complete explanation, as it has been observed that the extent of proteins trapped does not correlate with the severity of patient symptoms.
Our Plan to Help:
Sr. Hamel will compare how the extent of toxic RNA accumulation and protein dysfunction in the muscle cell nucleus relates to signs and symptoms of patients.
The Potential Impact of this Research:
Current therapies under investigation for the treatment of myotonic dystrophy are designed to decrease the levels of toxic RNA and thereby release trapped proteins. A better understanding of how and to what extent the RNA is toxic for the cell will help to define treatment goals for further drug development. This knowledge about RNA toxicity may also be of use for other genetic disorders caused by toxic RNAs.