In the study, experts analyzed the gene family.
American scientists from the Gladstone Institute and the University of California San Diego have identified genes that determine the development of one of the varieties of congenital heart disease.
About it reported in a press release on Phys.org.
In the study, experts analyzed a gene family in which several children suffered from the same deadly form of heart disease characterized by poor pumping of blood. Their father was a lighter version of the disease, and the mother’s heart was normal.
It turned out that the man had mutations in the genes MYH7 and MKL2, which his children inherited. They also passed on a mutation in the gene NKX2-5 from the mother. Every change in the genes affected only one amino acid. However, children themselves were different variations of other genes, so researchers could not say for sure, only if there is enough parental mutations for the development of heart disease.
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Using CRISPR technology, scientists have made a similar mutation in the DNA of mice. In animals, the genes of which were all three types of changes that have developed defects, reminiscent of those of the children. There have also been changes in expression of hundreds of other genes involved in the development of the heart and the coronary circulation.