Breakthrough Research on Hereditary Heart Disease PLN: Hope for Treatment and Cure

This disease, which originally originated in Friesland, can cause serious heart failure and cardiac arrhythmias with cardiac arrest.

Scientists from the University Medical Center Groningen and Amsterdam UMC, among others, have succeeded in protecting heart muscle cells against the deterioration that occurs in the hereditary heart muscle disease PLN. This disease, which originally originated in Friesland, can cause serious heart failure and cardiac arrhythmias with cardiac arrest and is currently incurable. The discovery represents a first step towards a treatment for an estimated 10,000 people, in the Netherlands alone, who have or may develop this disease. The Heart Foundation supports the research.

Wrong protein produced
People with the hereditary heart muscle disease PLN have a change in that part of the DNA that is responsible for the production of the protein phospholamban. This protein is important for the contraction and relaxation of heart muscle cells. The error in the DNA causes the wrong protein to be produced. Researchers have now shown that an important network in the heart muscle cell, which regulates the contraction and relaxation of heart muscle cells, becomes deformed by this incorrect PLN protein. The heart muscle cell therefore deteriorates and eventually dies, causing healthy heart tissue to diminish and scar tissue to form in the heart. This causes the heart to pump increasingly poorly.

Professor Dr. Arthur Wilde, medical advisor to the Heart Foundation: “The PLN disease is a special disease because, due to its genetic background, it mainly occurs in the Netherlands and is untreatable. This leads to a serious burden of disease and premature death of many carriers of this disease. There is therefore an urgent need for a completely new treatment strategy and this wonderful research is a first step in that direction.”

Slow down the decline
The researchers have discovered that they can slow down the deterioration process in mice with this disease by having the heart muscle cell produce another protein called DWORF. This is the first step towards treating this disease. They published the results in the leading journal Circulation Research. In follow-up research, the researchers will study how they can stimulate this protein in patients, but also how they can suppress the wrong PLN protein.

Frisian origin
Hans Snijder, director of the Heart Foundation: “The change in the DNA that causes this disease originated approximately 600 to 800 years ago in Friesland. As a born and bred Frisian, I am of course extra pleased with the results of this first study.” People with the heart muscle disease PLN can develop serious heart rhythm disorders and heart failure. This form of heart failure can be so dangerous that a supportive heart or heart transplant is the only way out. There is no specific treatment that slows the disease. Patients can only receive an ICD that intervenes in cardiac arrhythmias, or be treated with heart failure medications to reduce signs and symptoms due to heart failure.

The publication of the research is here to read and read here the earlier interview with researcher at the UMCG Herman Silljé.

Bron: Heart Foundation

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2023-12-28 07:00:33
#step #treatment #Dutch #heart #muscle #disease