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Current DM Research Update

Researchers have published several recent studies on advances in DM research. Dr. Katharine Hagerman, Ph.D., Research Assistant at Standford University, has provided MDF with lay summaries of some of this research. See below for the summaries and for links to the research studies and abstracts. 

 

1.    Researchers at The Scripps Research Institute in Florida recently created a new chemical modification to increase the potency of a drug that targets the unhealthy RNA associated with DM. Doctors Matthew Disney and Lirui Guan added a reactive molecule to their chemical that binds the unhealthy DM-associated RNA, enabling the chemical to attach to the RNA 2,500-times stronger than without the modification.  

The presence of this unhealthy RNA in myotonic dystrophy is known to have many deleterious consequences, such as altering the processing of other RNA molecules, and the Disney lab's modified chemical also improved the RNA processing in myotonic dystrophy-like cells.  Not only can the Disney Lab’s discovery be applied to improve the potency of other RNA-targeting drugs, but it can also be used to help identify whether the drugs are binding to their intended targets or other off-target RNAs.  Click here to read the abstract. 

 

2.  Scientists from Baylor College of Medicine recently investigated defects that occur in muscles of individuals with DM1. With partial funding from MDF, doctors Thomas Cooper and Zhihua Gao examined type 1 muscle fibers with DM1, which are normally responsible for sustained muscle contraction but become wasted and weak in DM1. 

Previous studies have shown that the DM1 mutation in DNA causes a toxic RNA molecule to be produced. This RNA molecule causes many downstream effects, such as processing other RNA molecules improperly, and creating embryonic versions of proteins instead of adult versions of proteins. In this study they found that another protein, PKM, is mistakenly processed into the embryonic version in type 1 muscle fibers of people with DM1.  Not only do these DM1 muscles require more energy to function normally, but they also produce less energy overall, likely contributing to the weakness and wasting seen in affected individuals. Click here to read the abstract.

 

3.    A recent publication by health care workers at The University of Tennessee summarized complications occurring during pregnancy for those with DM and other neuromuscular disorders. Often, the research findings focused on either myotonic dystrophy type 1 or type 2, but many of the complications occur in both. Furthermore, some symptoms may arise due to manifestations of the disease in the pregnant woman, while others arise due to her child having congenital myotonic dystrophy (only found with DM1). A list of complications that occur more frequently in pregnant women with DM can be found on the MDF website. Additional information about the studies can be found on the following web pages:

Bird, "Myotonic Dystrophy Type 1"

Dalton, Ranum, & Day, "Myotonic Dystrophy Type 2"

Johnson & Heatwole, "Myotonic Dystrophy: From Bench to Bedside"

Frazer, Porter, & Goss, "The Genetics and Implications of Neuromuscular Diseases in Pregnancy"

09/19/2013

 

 

 

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