Congenital heart disease affects roughly two out of every 100 newborns worldwide, making it one of the most common types of birth defects. Yet scientists are still working to understand exactly why these heart abnormalities develop. Researchers at the University of Copenhagen have now identified a previously unknown cellular mechanism that may provide an important part of the explanation.
"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," says Lars Allan Larsen, an expert in congenital heart disease and Professor at the Department of Cellular and Molecular Medicine.
A Tiny Cellular Antenna Helps Guide Heart Development The newly identified mechanism operates within the primary cilium, a microscopic antenna-shaped structure that extends from the surface of most cells in the body. Primary cilia help cells sense and interpret chemical signals from their surroundings. Those signals can influence major cellular decisions, including whether a cell divides, moves or dies.
The researchers found that three proteins, TAK1, TAB2 and PKA-Cα, work together as a signaling hub inside this cellular antenna. Their activity appears to be important for the normal formation of the heart. "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," explains Søren Tvorup Christensen, Professor of cell biology at the Department of Biology. Congenital heart disease refers to structural abnormalities of the heart that arise during embryonic development. Approximately 2.3 to 2.5 million newborns worldwide are affected by congenital heart disease each year.
An estimated 16 million people are living with congenital heart disease (data from 2023). Together, these figures make congenital heart defects among the most common birth defects worldwide. Some congenital heart defects occur as part of a wider genetic syndrome that can also produce abnormalities elsewhere in the body.
Extract — continue reading at the source.
