One faulty gene copy can make the heart’s DNA fold the wrong way
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.
Why it matters
Understanding how gene haploinsufficiency affects 3D DNA folding provides a new mechanism for explaining various developmental birth 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.
For years, researchers have been trying to understand why losing the function of just one copy can have such a major effect on heart development, even when the second copy still works.
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