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Genetics found people with superpowers

Генетики обнаружили людей с суперспособностями

Researchers from the Medical center mount Sinai hospital analyzed the genomes of half a million people and found about ten healthy people with a mutated gene, which inevitably had to lead to a deadly disease. Causes of resistance mutations still remain unknown. A study published in the journal Nature Biotechnology.

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. Was checked 874 of the gene that are characterized by full penetrance mutations in them appear in 100 percent of cases. Genetics also checked whether the investigated people show no symptoms of the disease.

The analysis revealed 13 people who were completely resistant to one of the eight genetic mutations, despite the fact that previously this was considered impossible. One of these mutations causes cystic fibrosis — a serious and incurable disease, leading to impaired function of the respiratory system.

Scientists emphasize that genetic testing is typically limited to patients who exhibit symptoms of the disease, as well as their family members. Such an approach may help to ensure that a small number of people silent mutations go unnoticed.

Geneticists have so far failed to obtain consent from individuals for the further research, therefore, the mechanisms responsible for resistance, are unknown. However, scientists believe that here play the role of factors that mediate the effects of vysokomanevrennyh mutations. Their discovery could help in the creation of effective targeted therapy.

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