Protection against deadly mutations
Geneticists have discovered people with superpowers
Researchers from Mount Sinai Medical Center analyzed the genomes of half a million people and found about ten healthy people with a mutated gene that was bound to lead to a fatal disease (see the press release of Researchers from Mount Sinai and Sage Bionetworks Report Analysis of Nearly 600,000 Genomes for Resilience Project - VM). The causes of mutation resistance remain unknown for the time being. The study was published in the journal Nature Biotechnology (Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases).
Scientists have studied the genetic data of about 590 thousand people to find those who demonstrate a healthy phenotype in the presence of mutant genes associated with one of 584 severe genetic disorders. 874 genes were tested, which are characterized by complete penetrance – mutations in them lead to disease in 100 percent of cases. Also, the geneticists checked whether the studied people really do not show any symptoms of the disease.
The analysis revealed 13 people who were completely resistant to one of the eight genetic mutations, despite the fact that it was previously considered impossible. One of these mutations causes cystic fibrosis, a severe and incurable disease that leads to respiratory disorders.
Scientists emphasize that genetic testing is usually limited to patients who show symptoms of the disease, as well as their family members. Such an approach may contribute to the fact that silent mutations remain unnoticed in a small number of people.
Geneticists have not yet been able to obtain consent from individuals to continue research, so the mechanisms responsible for resistance remain unknown. However, scientists suggest that factors that mediate the effects of highly penetrant mutations play a role here. Their detection could help in creating an effective targeted therapy.
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12.04.2016