PLN cardiomyopathy
Investigating and treating phospholamban cardiomyopathy
PLN cardiomyopathy
Phospholamban (PLN) plays a key role in calcium handling in heart muscle cells and as such impacts on proper contraction and relaxation of the heart.
Carriers of the PLN p.Arg14del pathogenic variant have a high risk of developing dilated cardiomyopathy (DCM) and/or arrhythmogenic cardiomyopathy (ACM) that may develop into heart failure. A founder mutation of this pathogenic variant was described by us and ±14% of Dutch DCM and ACM patients carry this pathogenic variant. Meanwhile, this pathogenic variant has also been found in other European countries, USA, Canada and in China, suggesting that it may be more widespread than originally anticipated. There is no established treatment for these patients other than standard heart failure therapy or heart transplantation.
We are the main PLN cardiomyopathy centrum in the Netherlands and together with our collaborators we investigate this syndrome at multiple levels in order to find therapeutic options to fight this disease. Amongst others, we participate in clinical PLN-R14del carrier registry, investigate clinical therapies (iPhorecast study) and investigate genetic and molecular aspects of this disease. The latter is performed in our own laboratory using state of the art techniques, including induced pluripotent stem cell (iPSC) technology, transgenic animal models and bioinformatics.
We are looking for enthusiastic PhD students and post-docs, both medical doctors and biologists to investigate the pathology of PLN cardiomyopathy and to test tailor made therapies targeting this disease.
National and international collaborations
Prof. Jolanda van der Velde, Amsterdam, The Netherlands
Prof. Pieter Doevedans, Utrecht, The Netherlands
Prof. P. van Van Tintelen, Utrecht, The Netherlands
Prof. F. Asselbergs, Utrecht, The Netherlands
Prof. A.M. de Wilde, Amsterdam, The Netherlands
Dr. B. Boukens, Amsterdam, The Netherlands
Prof. Litza Kranias, Cincinnati, USA
Prof. Stefan Lehnart, Göttingen, Germany
Prof. M. Mercola, Stanford, USA
Prof. Kevin Costa, New York, USA
