What is PLN?
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
In the north of the Netherlands, it is estimated that 1 in 1,500 people carry this mutation. This means that thousands of people in the Netherlands have to walk around with the PLN mutation, many of whom do not know about it. In 2020, the mutation was diagnosed with more than 1,500 people. PLN is therefore an orphan disease. It is highly likely that the mutation originated around seven hundred years ago in a Frisian ancestor. Almost all carriers can be traced back to this Frisian origin.
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 mutation is a hereditary disease and is therefore passed on from generation to generation. The mutation inherits an autosomal dominant inheritance. This means that if someone has the predisposition, they have a 50% chance of passing on the predisposition to each of their children. The predisposition occurs equally often in men and women. Probably the mutation has been able to spread in this way because it usually only manifests itself after the child’s fertile age. Most carriers have already had children before they develop any symptoms.
Read more here about heredity
The PLN Foundation is a non-profit organisation (ANBI) that was established to put an end to the life-threatening heart muscle disease caused by the PLN mutation. The Foundation was set up by fellow PLN members, family and their loved ones. With your help it is possible to have research conducted hopefully leading to a cure. In addition, we can make the disease better known, which can save lives. Because the PLN mutation is relatively rare (probably several thousand carriers), only limited level of research was carried out in the Netherlands. Partly thanks to the PLN Foundation, this disease is now the subject of worldwide attention and research.
Echo of a healthy heart (left); echo of a heart with cardiac muscle disease PLN (right)
There are many ways in which you can help eradicate PLN: make a one-off donation, make periodic donations, work out an initiative, allocate a legacy or inheritance for research into a life-saving method for this PLN mutation. The foundation works with volunteers only, who also pay all expenses incurred themselves. We can therefore guarantee that 100% of your donation is used to realise the goals of our foundation.