Zurich – A previously unknown protein is responsible for tetralogy of Fallot, a congenital heart defect. Researchers at the Swiss Federal Institute of Technology in Zurich (ETH) are now investigating a therapeutic approach to circumvent biochemical signals surrounding this protein.
Tetralogy of Fallot is a heart malformation that affects around 6 percent of children with congenital heart defects. According to a press release, researchers at the Swiss Federal Institute of Technology in Zurich(ETH) have discovered increased levels of a protein called BBLN in the tissue of newborn babies. According to the scientists, this protein content could be responsible for triggering the four heart defects of the disease. The clinical picture includes a hole in the dividing wall between the two heart chambers, a stenosis of the pulmonary artery, an aorta displaced to the right and hypertrophy of the heart muscle. "Babies with a severe form of tetralogy of Fallot are blue. You can see the lack of oxygen in them," Ursula Quitterer, Professor of Molecular Pharmacology at ETH, is quoted as saying in the press release.
Comparative tissue studies of affected and unaffected children showed that children with the heart defect had an increased level of a protein that Dutch researchers called bublin coiled-coil protein (BBLN).
In studies on mice, the ETH researchers found that an increased level of this protein led to an enlargement of the animal's heart. Further investigations revealed the molecular interactions that orchestrate the right-sided thickening of the heart muscle. The research approach of Quitterer's group is now to change the biochemical signaling of the BBLN protein in such a way that heart disease can be averted. This could be a new therapeutic approach. Until now, patients could only be treated surgically. ce/ww