Grant: Project Grant

Myotonic dystrophy type 1 (DM1) is a form of muscular dystrophy, it is characterized by multiorgan impairments including the heart. Eighty percent (80%) of patients with DM1 have abnormal heart beats known as cardiac arrhythmias and can die suddenly. Cardiac arrhythmias and sudden cardiac death are major health concern as it is estimated that every day >1000 sudden cardiac deaths occur in North America in general and in particular for DM1 affected individuals. Problems with heart rhythm and conduction will arise first and can cause shortness of breath, discomfort, palpitations, loss of consciousness and in severe cases, sudden cardiac death. The only available treatment for more severely affected DM1 patients is the implantation of a pacemaker or a defibrillator. These are small devices that are placed in the chest or abdomen of most vulnerable patients. Overall, the goal of this research is to identify the causes of heart electrical abnormalities in DM1 patients and come up with ways for interventions that will correct these abnormalities. We plan to achieve this by: 1) Studying the role of ion channels, these are pores through which ions such as sodium, calcium and potassium enter cardiac cells and are responsible for spreading the electrical activity throughout the heart and assess how they contribute to abnormal heart beat seen in DM1 patients. We will use state of the art technology such as fluorescent probes applied to stem cells and DM1 mouse model that allows to pinpoint to the site in the heart where the abnormal beat starts and follow how it spread throughout the heart. 2) Using sophisticated genetic tools known as molecular scissors, which can correct the disease expression in the heart. 3) Testing medications that can reverse the disease. The impact of this research is that the understanding the disease mechanisms will help cardiologists and other healthcare providers to improve the management and eventually improve treatment of DM1.