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Health Desk: Scientists have unveiled a big and important mystery to congenital heart disease. According to a new research recently published in 'Science' magazine, a gene named 'TBX5' to heart disease works like an architect for the DNA of heart cells. Researchers have found that missing just one copy of this important gene disrupts the carefully folded 3D structure of the genome, causing genes needed for the development of a healthy heart to fail to function properly.

Congenital heart disease is one of the most common birth defects worldwide, affecting about 1 percent of babies born each year. Many causes of this condition include changes in the TBX5 gene. Scientists at the Gladstone Institute investigated in depth why having one less copy of this gene has such a negative impact on heart development. For this, using advanced techniques and computational models, he studied everything from human stem cells to heart muscle cells in detail.

The study revealed that DNA is not just packed randomly, but each cell folds its genetic material into a specific three-dimensional arrangement. When one copy of the TBX5 gene is lost, this entire 3D organization—at the level of compartments, domains, and chromatin loops—disintegrates. Scientists believe that this discovery will not only help in understanding heart diseases, but can also prove important in solving the biological reasons behind many other types of birth defects in the future.

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