Breakthrough Treatment for Hereditary Heart Muscle Disease PLN Discovered by University Medical Center Groningen and Amsterdam UMC

Scientists from the University Medical Center Groningen, together with scientists from the Amsterdam UMC, among others, have succeeded in protecting heart muscle cells against the deterioration that occurs in the hereditary heart muscle disease PLN.

The disease originated in Friesland about 600 to 800 years ago due to a change in the DNA. PLA can cause severe heart failure and cardiac arrhythmias with cardiac arrest. There is currently no medicine that can cure the disease.

But there is a treatment available for an estimated 10,000 people in the Netherlands who have or may develop this disease. People with the hereditary heart muscle disease PLN have a change in that part of the DNA that ensures the production of a specific protein. The error in the DNA causes the wrong protein to be produced. This causes heart muscle cells to deteriorate and die. This leaves scar tissue, causing the heart to pump increasingly poorly.

The 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 researchers have discovered that they can slow down the deterioration process in mice with this disease by causing the heart muscle cell to produce a different protein. This is the first step towards treating this disease.

In follow-up research, the researchers will study how they can stimulate the new protein in patients, but also how they can suppress the wrong PLN protein.

2023-12-22 20:14:00
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