Genetic Heart Muscle Disease Foundation PLN

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About PLN

What exactly is PLN?

Calcium ions in the heart muscle cells are important for our heart to beat. The protein phospholamban (PLN) plays an important role in the calcium balance of the heart muscle cells. In 2010, a mutation (change in the DNA) in the PLN gene was linked to the development of heart muscle disease in the Netherlands. The Dutch mutation concerns the lack of the amino acid arginine (Arg) at position 14 and is therefore called in scientific terms: PLN p.Arg14del (1).

Science News | Zebrafish 

The research groups of Jeroen Bakkers and Toon van Veen provide the first patient-specific model for the heart disease arrhythmogenic cardiomyopathy (ACM). They managed to mimic the human form of this disease in zebrafish by inducing a genetic mutation called Phospholamban (PLN) p.Arg14del in the fish’s DNA. The resulting cellular changes could be repaired with the drug istaroxime. The results – published December 9 in Nature Communications – may contribute to the understanding of the molecular mechanisms of the PLN mutation and the ways in which symptoms of ACM can be alleviated in patients. Read more here: UMCU website

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