Myotonic Dystrophy (DM) Types 1 and 2

Below we provide a few examples of the research being done here at the Center for NeuroGenetics specifically on Myotonic Dystrophy. Visit each of the individual researchers sites by clicking on their name for more detailed information on their backgrounds and research projects.


Drs. Andy Berglund, Maurice Swanson and Eric Wang received a National Institutes of Health (NIH) grant to determine the cis and trans acting mechanisms through which the splicing factor, muscleblind, regulates alternative splicing. Results from these studies will provide a better understanding of muscleblind’s role in myotonic dystrophy.


Dr. Andy Berglund received a Muscular Dystrophy Association (MDA) grant to determine the mechanism of action (MOA) of a class of lead compounds that rescue missplicing in myotonic dystrophy. Understanding the MOA will be used to direct the synthesis of new molecules for study in myotonic dystrophy cell models which could lead to new therapeutic treatments for myotonic dystrophy.


Dr. Maurice Swanson received a Muscular Dystrophy Association (MDA) grant to develop knockout and transgenic models of myotonic dystrophy type 1 to extend the RNA dominance hypothesis to congenital myotonic dystrophy.


Drs. Laura Ranum and Maurice Swanson received a National Institutes of Health (NIH) program project grant entitled “Myotonic Dystrophy: Molecular Pathophysiology and CNS Effects”.  Dr. Ranum’s lab is characterizing the impact of proteins generated through a process called Repeat Associated Non-ATG (RNA) translation from the expanded repeat region of DNA (CTG/CCTG) found in DM1 and DM2.  Her lab is trying to determine if RAN proteins are produced in the human brain and do they contribute to the cognitive issues associated with DM.  Dr. Swanson’s lab is focused on uncovering the specific roles of the RNA-binding proteins known as muscleblind-like gene family (MBNL 1-3).  He is specifically interested in the roles of MBNL in various cell types and identifying mis-splicing events of genes that can lead to the characteristic disease manifestations seen in DM1 and DM2.  His lab is also working on identifying if normal MBNL interactions are disrupted during brain development in congenital DM (CDM).


 A great website to visit for patients and families is the Myotonic Dystrophy Foundation site. There is a wealth of information available on understanding what DM is and how to improve your quality of life if you have been diagnosed with DM.