Mechanisms of cardiomyopathy in β-sarcoglycan associated limb girdle muscular dystrophy type 2E.

Limb girdle muscular dystrophy type 2E is a rare genetic disease linked to a mutation of a protein called sarcoglycan, affecting children at an early age inducing muscle pain and weakness. An important complication of the disease is an impairment of the heart function. In the project, we want to understand the defects in the heart cells (cardiomyocytes) during this disease. For that, we will study cardiomyocytes from a mouse model of the disease and human cells that have the sarcoglycan mutation as in patients. For that purpose we will transform blood cells through a series of treatments into cells that are very much like cells from the heart. We will test our idea that the disease is caused by problems in maintaining a healthy balance in the Ca2+ movements within the cell. This study will help us to understand better the disease and hopefully show some potential ways for reducing the heart problems.