For our heart to beat, calcium ions in the heart muscle cells are important. The phospholamban (PLN) protein plays an important role in the calcium balance of the heart muscle cells. In 2012, a mutation (change in DNA) in the PLN gene in the Netherlands was associated with the development of a heart muscle disease. The Dutch mutation concerns the absence of the amino acid arginine (Arg) at position 14 and is therefore called in scientific terms: PLN p.Arg14del.
Because of this genetic abnormality, the PLN protein cannot always function properly. At the age of seventy, half of the carriers have serious heart-related complaints, such as heart failure or serious cardiac dysrhythmia. It is not yet clear why one person becomes ill and the other does not. Even within families this can differ.
PLN mutation-related complaints could manifest through:
- heart rate surges
- shortness of breath
- (severe) fatigue
- chest pain
- reduced stamina
- sudden cardiac death
Currently, there is no treatment for the PLN mutation. For each patient it is determined how the symptoms can be reduced as much as possible. Sometimes this is achieved by medication, sometimes an ICD (Implantable Cardioverter Defibrillator, a kind of pacemaker) is given, which intervenes in case of arrhythmia. In extreme cases, a support heart (LVAD) or eventually a heart transplant may be necessary.
The PLN Foundation is continuously engaged in scientific research and projects. In recent years we have expanded our network with (inter)national research centers. We connect rereachers worldwide, motivates research, stimulates and finances young talent and out-of-the-box ideas.
The PLN Foundation funds pioneering research and we issue an annual Crazy Idea Proposal Contest. Obtaining funds for pioneering research is difficult. Through our funding scientists can start the project. Once there are positive results, resources from other funds can be obtained. In this way, we always follow new developments and insights. We also encourage and finance young talented students and postdocs. They can work in different laboratories / research centers worldwide to accelerate our research there. They take the knowledge gained back to the Netherlands.
More information can be found on the website https://plnheart.org/