Inside embryonic cells, specific proteins control the rate at which genetic information is transcribed from DNA to messenger RNA — a crucial regulatory step before proteins are created. Then, organs develop and hopefully function properly. Those specific “regulatory” proteins are called transcription factors, and they do their thing by binding to specific DNA sequences at just the right time.
Scientists have known that mutations to three cardiac transcription factors — GATA4, NKX2-5 and TBX5 — lead to a range of congenital heart disease states. Researchers have thought that an inability of these mutated genes to “turn on” cardiac genes is what led to heart disease.
