Copenhagen researchers uncover cellular mechanism causing congenital heart defects

Researchers identified a previously unknown signaling mechanism in cell antennas, primary cilia, that is crucial for heart development and may explain congenital heart defects. The University of Copenhagen study found three proteins—TAK1, TAB2, and PKA-Cα—act as a signaling hub in the cilium, instructing stem cells to become heart muscle. Genetic mutations disrupting this can cause defects. Researchers combined patient genetic data with zebrafish, human cell, and mouse stem cell experiments. The mechanism may also affect other organs, helping explain syndromic heart disease and related ciliary disorders.