The heart is ‘tired’ due to distinct genetic mutations

The heart is ‘tired’ due to distinct genetic mutations

A ‘tired heart’ that struggles to pump, and heart failure, can arise as a result of distinct genetic mutations that activate different molecular mechanisms: this is evidenced by the study of more than 800,000 healthy and diseased heart cells, analyzed one by one. by an international research consortium led by Harvard Medical School (HMS) and Brigham and Women’s Hospital. I study, published In Science, part of the Human Cell Atlas project that aims to map every type of cell found in the human body. In the future, it will help develop increasingly personalized and effective treatments to reduce the number of heart failure patients who need a heart transplant.

“Our findings have tremendous potential to rethink the way we treat heart failure and stress the importance of understanding its root causes and the mutations that lead to changes that can alter the functioning of the heart,” says Heart Coordinator. Christine E. Seidman study from Hms.

The researchers examined samples of heart tissue from 18 healthy people and 61 patients with heart failure. By analyzing the RNA molecules produced by the genes that are turned on in each single cell, diseased hearts were shown to have fewer cardiomyocytes (appropriate cardiomyocytes), with more immune system cells and endothelial cells. that make up the blood vessels. Conversely, connective tissue cells (fibroblasts) are not increased, but have exaggerated activity and produce a lot of extracellular matrix (especially in patients with the mutated RBM20 gene). The large amount of data generated by the analyzes has been processed with the help of artificial intelligence, showing that different genetic mutations lead to disease by activating different, and sometimes convergent, molecular pathways.

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