Ion Channel Discovery Unveils Key to Coronary Vessel Formation
Scientists have discovered a vital role for a specific ion channel in the intricate process of coronary vessel development, opening new avenues for understanding and potentially treating congenital heart defects. This breakthrough could pave the way for earlier diagnostics and intervention.
The Role of PIEZO2
Research, helmed by Dr. Annette Hammes from the Max Delbrück Center, has revealed the PIEZO2 ion channel is crucial for developing coronary vessels. This channel, known for detecting touch stimuli, significantly impacts how these vital blood vessels form and function.
Without the PIEZO2 channel, mouse models displayed malformed coronary arteries. These vessels were either too narrow or branched abnormally, which reduced oxygen supply to the heart muscle. This phenomenon mirrors issues seen in humans with Marden-Walker syndrome, a rare genetic disorder caused by an overactive PIEZO2 variant. In both cases, the heart muscle, especially the left ventricle, becomes abnormally thick due to the irregular development of blood vessels.
“Malfunctions in this ion channel during embryonic development may initially lead to subtle yet unnoticeable vascular changes – only to trigger serious heart issues later in life or under physical stress.”
—Dr. Annette Hammes, Max Delbrück Center
According to the American Heart Association, congenital heart defects affect nearly 1% of births annually in the United States, underscoring the need for improved understanding and treatment (American Heart Association).
Further Investigation
Dr. Hammes’ team is collaborating with institutions like the Helmholtz Institute for Translational AngioCardioScience to determine how PIEZO2 can be influenced in humans. They are using human endothelial cells derived from pluripotent stem cells for this research.
The study’s findings could enhance the diagnosis and prevention of genetically caused cardiovascular diseases. Dr. Hammes believes this research expands the list of genes potentially useful in diagnostics and prevention, aiming for earlier detection and intervention.