To enable the heart to carry out its pumping function, millions of cardiac muscle cells contract. The ability of the individual heart muscle cells to communicate with one another is crucial for ensuring that these contractions are carried out correctly. As a result, heart muscle cells need to be closely attached to one another. Desmosomes, which are intricate protein bridges that connect the cells in a healthy heart, make up these connections. Arrhythmogenic cardiomyopathy can arise when mutations take place in the genes that contribute to these structures (ACM). Heart failure caused by the gradual and frequently hereditary condition known as ACM. ACM affects 1 in 5000 people over their lifetime, but little is known about the illness, and there is currently no cure.
Millions of cardiac muscle cells contract to allow the heart to perform its pumping function. The correct execution of these contractions depends on the individual heart muscle cells’ ability to interact with one another. Heart muscle cells must therefore be closely bound to one another. These linkages are made up of desmosomes, which are complex protein bridges connecting the cells in a healthy heart. When the genes that contribute to these structures are altered, arrhythmogenic cardiomyopathy can result (ACM). ACM, a progressive and commonly inherited disorder, results in heart failure. In their lifetime, 1 in 5000 persons will develop ACM, yet little is known about the condition and there is no recognized treatment.
The research, which was published in Stem Cell Reports, may help in the creation of fresh ACM treatments. The results of this study also provide fresh perspectives on the evolution of ACM that may be useful for future investigations. “Even though we don’t understand how the new mutation causes higher amounts of PITX2, we can observe the same effect in a different mutation. Increased PITX2 levels could cause ACM in the presence of numerous other mutations “explains Eva van Rooij, the study’s final author and group leader at the Hubrecht Institute. Therefore, it is imperative to conduct more research into these various mutations.
