In order to make our heart beat, calcium ions that flow in and out of the myocardial cells, are very important.
Heart disease is caused by a loss of cardiomyocytes (heart muscle cells), usually because of a heart attack or weakening of the cardiac muscle cells. Heart contractions and the ability to pump blood through our bodies depend on well orchestrated calcium movements in and out of the cell. The PLN (phospholamban) gene is a key regulator of the pump that controls calcium cycling. Scientific names for this PLN gene mutation are c.40_42del AGA and p.Arg14del. (more…)
PLN. Our heart muscle disease belongs to the group of rare heart diseases that can have serious consequences for over thousands of gene carriers in the Netherlands and abroad. As a patient, you are looking for the best possible care, an accurate diagnosis and ...Read More
The PHOspholamban RElated CArdiomyopathy STudy (PHORECAST) aims to investigate several aspects of the PLN p.Arg14del mutation and the carriers of this gene mutation. Some of these research projects include PLN p.Arg14del mutation carriers and (more…...Read More
The transatlantic project The PLN disease is a currently uncurable heart muscle disease caused by a genetic mutation in the DNA. Carriers of this mutation are exposed to a major health risk which may express itself in moderate to very serious heart failure, a...Read More