Tetralogy of Fallot is a heart malformation that affects around six per cent of children with congenital heart defects. According to a statement, researchers at the Swiss Federal Institute of Technology in Zurich (ETH) have discovered an increased level of a protein called BBLN in the tissue of affected newborns. The scientists explain that this protein content could be responsible for triggering the four heart defects associated with the disease.
The four defects include a hole in the wall dividing the left and right ventricles; pulmonary stenosis, in which blood flow to the pulmonary artery is obstructed; an aorta with the major blood vessel deviating to the right; and right ventricular hypertrophy. “Babies with a severe form of tetralogy of Fallot are blue. You can see the lack of oxygen in them,” commented Ursula Quitterer, Professor of Molecular Pharmacology at the ETH, in the statement.
Comparative tissue studies of affected and unaffected children have found that children with the heart defect have an increased level of a protein that Dutch researchers named 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. Quitterer's research group is now focusing on changing the biochemical signaling of the BBLN protein to avert heart disease. This could be a new therapeutic approach in a field in which until now, surgery has been the only option. ce/ww
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