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Science Daily·3 min read·medium

One faulty gene copy can make the heart’s DNA fold the wrong way

One faulty gene copy can make the heart’s DNA fold the wrong way
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Researchers at Gladstone Institutes have discovered that the TBX5 gene plays a critical role in organizing DNA into 3D structures within heart cells. Losing one copy of this gene can disrupt this organization, leading to congenital heart defects.

Congenital heart disease is the most common birth defect, affecting about 1 in 100 babies born each year. The condition can have many causes, including changes involving TBX5, a gene that plays a critical role in building the heart. In some cases, a child has only one working copy of TBX5 rather than two healthy copies inherited from the parents.

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