Researchers at the University of Copenhagen have identified a cellular communication system that may explain the development of some congenital heart defects. The discovery centers on microscopic, antenna-shaped structures called primary cilia and the proteins within them.
Congenital heart disease affects roughly two out of every 100 newborns worldwide, impacting an estimated 2.3 to 2.5 million newborns annually and leaving approximately 16 million people living with the condition as of 2023. Scientists have been working to understand the causes of these heart abnormalities.
Lars Allan Larsen, an expert in congenital heart disease and Professor at the Department of Cellular and Molecular Medicine, explains, “We have discovered a new communication system on the exterior of the cell that is crucial for the proper formation of the heart during embryonic development. This finding changes our understanding of why some congenital heart defects arise. You could say that we have identified an important cog in a highly complex machine.”
The newly identified mechanism operates within the primary cilium, which helps cells sense and interpret chemical signals that influence cellular decisions such as division, movement, and death. Researchers found that three proteins – TAK1, TAB2 and PKA-Cα – function as a signaling hub inside the primary cilium. Their activity is important for normal heart formation.
Søren Tvorup Christensen, Professor of cell biology at the Department of Biology, states, “These proteins act as molecular instructions that tell stem cells when and how to develop into heart muscle cells. However, genetic alterations can disrupt this communication, causing ‘antenna defects’, which may lead to congenital heart defects.” Some congenital heart defects occur as part of a wider genetic syndrome that can also produce abnormalities in other organs, including the brain, kidneys, and skeleton.
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