People with myotonic dystrophy type 1 (DM1), the most common adult-onset form of muscular dystrophy, progressively lose muscle mass and strength in their lower legs, hands, neck and face. The effects of the condition extend to the cardiac and central nervous systems and the gastrointestinal organs. The laboratory of Dr.
Thomas A. Cooper, professor of pathology and immunology, of molecular and cellular biology and of molecular physiology and biophysics at Baylor College of Medicine, has long been improving our understanding of DM1. In the current study published in Human Molecular Genetics , Cooper and his colleagues have tested a strategy to improve heart defects associated with the disease and uncovered an unexpected new insight into the condition.
Cardiac problems affect 50% of DM1 patients and are the second leading cause of mortality in affected individuals, after respiratory insufficiency resulting from skeletal muscle wasting. "DM1 affects various aspects of cardiac function, but primarily involves conduction delays and arrhythmias, problems with the electrical system of the heart," said Cooper, who also is the S. Donald Greenberg and R.
Clarence and Irene H. Fulbright Professor and a member of the Dan L Duncan Comprehensive Cancer Center at Baylor. "Our lab has developed a mouse model that replicates many of the cardiac characteristics observed in the human disease.
In this model we tested an approach to reverse the cardiac problems of the condition." The widespread do.
