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OPTIMISTIC View of DM1

The OPTIMISTIC clinical evaluation of exercise training and cognitive behavioral therapy paradigms comes to publication.

Therapeutic Gene Modulation: Targeting Muscleblind’s Regulation by miRs

Feasibility is demonstrated in mammalian models for a therapeutic strategy that increases MBNL by sequestering MBNL-suppressive miRs.

Mechanisms of Muscle Wasting in DM1

Insights on the mechanisms that underlie muscle atrophy in DM are provided by studies in a new mouse model.

Similar Molecular Mechanisms, But Divergent Phenotypes in DM1 and DM2—Why?

The RNA binding protein, rbFOX1, competes with MBNL in binding to CCUGexp, but not CUGexp repeats, and thereby mitigates DM2.

Important New Review Articles on DM

The review journal, Frontiers in Neurology, is publishing six new articles on myotonic dystrophy.

Microsatellite Expansions Selectively Trigger Intron Retention

Intronic GC-rich microsatellite expansions are common in neurological disorders and act to trigger the intronic retention that underlies disease pathogenesis.

Quantifying Mutant mRNA in DM1 and DM2

Methodology is reported for robust and reliable quantification of mutant and abberantly spliced RNA in cells from DM patients.

Genome Editing: The Hope and the Hype

Some of you may have watched the news show, 60 Minutes, on April 29th. The 60 Minutes piece of interest to everyone with an inherited disease, like DM, was titled: “CRISPR: The Gene-Editing Tool Revolutionizing Biomedical Research”.

Determining DM Patients at Greatest Risk for Cardiac Problems

When cardiologist Dr. William J. Groh examined a young woman with an arrhythmia in 1995, he thought it was unusual. She did not have known heart disease or heart failure that would normally be associated with a serious heart rhythm disturbance. What she did have, though, was myotonic dystrophy (DM).

Using iPSC-Derived Cardiomyocytes to Understand DM1

Human iPSC-derived cardiomyocytes recapitulate some features of the DM1 heart.

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