Mutations in genes can cause deadly insomnia

According to scientists, each person in the genes has more than 50 mutations in the genes, which can cause the development of a serious disease and even death. But most often these mutations are not manifested in any way, and a person lives happily to old age. Spouses Sonia Vallab and Eric Minikel decided to find out why mutations often do not manifest themselves, for Sonya this study was vital, as she herself is the bearer of a mutational gene that causes the development of deadly insomnia.

At the researcher several years ago from a fatal mortal insomnia the mother died, the given disease is hereditary and the mortality from it is 100%. The disease has not manifested for many years and the first symptoms begin to appear about 50 years, when most people already have children. The probability that children will be given a fatal gene is 50%. The disease is manifested by severe insomnia, in which various, even the most potent sleeping pills are powerless, the patient begins to suffer from panic attacks, and after a few months death begins.

Scientists note that the cause of the development of the disease lies in the altered proteins (prions). Mutations occur in the 20 chromosome, in the PRNP gene and bind only one amino acid - asparagine. Prions reproduce very quickly, which leads to the formation of amyloid plaques that accumulate in the part of the brain that is responsible for sleep. According to some experts, this is what leads to severe sleep disorders, which are not available to modern methods of treatment.

After Sonia Vallab lost her mother, she underwent a genetic examination and learned that she could also die from a fatal insomnia. At the time of analysis, the girl was 26 years old and she did not want to give up, together with her husband she learned to be a biologist to learn everything about the hereditary disease and try to avoid a tragic end.

First of all, the spouses decided to find out whether the presence of a mutation in the gene always provokes the development of the disease. As was evident from previous studies, many potentially harmful mutations do not manifest themselves in any way. A large genetic study made it possible to collect a database of exomes of 60,000 people, which helped to identify the frequency of mutations among different populations, and also to find out which proteins are coded and what their purpose is.

This database allows researchers to determine which disease a particular mutation will cause. Mutation D178N is responsible for the development of prion diseases, which include fatal insomnia.

3 years ago, Sonya studied stem cells, and her husband bioinformatics, they studied together in one of the hospitals in Massachusetts. At the same time, there was an acquaintance with the geneticist Daniel MacArthur, who took part in the creation of the database. Sonya's husband decided to join the team of MacArthur to find out whether the mutations discovered by his wife are really dangerous for life.

After finishing work on the base (in 2014), health workers and scientists recognized that it would indeed help to change the understanding of genetic risks. In August of this year, MacArthur and his colleagues in one of the journals published an article in which they stated that many mutations in the genes are not dangerous and among the healthy people the wrong genes are widely distributed.

Concerning the mutations in the PRNR gene, a separate study was conducted by Sonya and her husband, in which they studied data from more than 15,000 people suffering from various prion diseases and compared them with the data of people from the MacArthur database and other studies. 52 people with mutations in the corresponding genes were identified, this clearly indicated that prion diseases are quite common. But mutations of D178N were not detected in the control group, which means that the likelihood of developing a deadly disease in Wallab is 100%. The only chance for the girl's salvation is the development of an effective drug against fatal insomnia.

Sonia's husband, after studying the MacArthur database, found that the activity of mutational genes can be suppressed. According to Mikikel, if one manages to find a way without violating the body's functions to prevent the reproduction of prions, then the development of the disease can be stopped. Now the couple are working with biochemist Stuart Schreiber and are trying to create medicines to treat fatal insomnia. Now Wallab is 32 years old and she has an average of 20 years to find a cure for the deadly disease.

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