Scientists from the Carlos III National Center for Cardiovascular Research have identified the mutations that cause the most common congenital heart defects. Study published in the journal JAMA CardiologyIt will allow the development of non-surgical methods for the treatment of aortic valve disease.
Bicuspid aortic valve is the most common congenital heart disease and affects 1% to 2% of the population. With this defect, instead of the normal three symmetrical leaflets, patients have two asymmetrical valves. Currently, the only effective treatment is valve replacement surgery.
In a new study, scientists have shown that bicuspid aortic valve disease is caused by mutations in the MINDBOMB1 (MIB1) gene.
The biologists used the CRISPR-Cas9 system to edit mouse genes to analyze the specific mechanisms by which the MIB1 gene ensures proper development of the heart. They found that heart disease development was associated with dysfunction of the NOTCH signaling pathway.
Scientists believe that developing drugs that target the NOTCH pathway will help prevent and diagnose bicuspid aortic valve disease in infants.
The scientists collaborated with Hadassah and Sheba hospitals in Israel, the Georges Pompidou European Hospital and the University of Paris in France, the University of Antwerp in Belgium, Radboud University in the Netherlands, and Harvard University in the United States for the study. and the Karolinska Institute in Sweden.
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