Collaborative project of researchers from Hubrecht Institute, UMC Utrecht and Amsterdam UMC receives funding from ZonMw Open Competition

Cardiomyopathies are a group of diseases that severely affect the heart muscle, which can result in heart failure and death. The phospholamban R14-deletion (PLN-R14del or PLN) is the most common mutation related to cardiomyopathy in the Netherlands. Carriers of this mutation have a high risk of developing heart failure. However, despite decades of research, very little is known about the mechanisms of this devastating disease.

Disease models

With the CONTRACT project, researchers from the Hubrecht Institute, the UMC Utrecht and the Amsterdam UMC will investigate the consequences of PLN mutations for the heart. To that end, they have developed two disease models – a human stem cell- and a zebrafish model.

Using these models, the researchers aim to elucidate how mutations in PLN can affect the energy supply of the heart. The results will provide insights into the mechanisms underlying pathological changes in the heart, and help identify new risk factors and opportunities to identify treatment strategies.

New positions

The funding from ZonMw allows the collaborative project to continue for four years, during which there will be room for 2 PhD students and a postdoc. Additionally, the grant enables the purchase of a new device for the screening of heart muscle cells and zebrafish larvae.