The father of children with heart defects there are two satiromastix MKL2 иКМУН7.
Scientists previously believed that these defects results in a combination of heredity and prenatal environmental factors. And now it is established that is responsible for everything trio of genetic mutations.
This writes the Chronicle.info with reference to medikforum.ru.
Three genetic mutations are a lethal recipe of congenital heart disease, the study showed. Approximately 1% of all children appearing on the light, there are congenital heart defects that remain with us throughout life and sometimes significantly reduce its duration. Scientists have long suspected that at least partially these defects are genetic, but the exact cause of their occurrence and characteristic defects of the DNA remained obscure until recently.
And now, exploring gene family that has several children with congenital heart disease, American scientists have discovered three genetic mutations that are most likely causing these defects. Observations have shown that the father of children with heart defects there are two satiromastix MKL2 иКМУН7 associated with heart disease. He noted a change in only one amino acid. The mother’s heart was healthy, but sequencing its genome showed that it has a mutation in the gene NKX2-5, which also alters one amino acid. Children from these parents inherit all three mutations, and using CRISPR, scientists have proven that this trio of genetic mutations and became a cause of the development of congenital heart defects.
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This is a very important study, because it today at the disposal of science has tools editing of the genome, including at the stage of fetal development. We are talking about the CRISPR program, which this kind of defects is theoretically possible to eliminate, thereby saving lives and health of millions of children around the world.