Russia was first identified by a very rare mutation in the gene CTNS, which is characterized by slow destruction of the human organs. Found her the specialist Clinical Institute of Pediatrics, Russian children’s clinical hospital and medical genetic center Genotek, their report presented in the journal Clinical Case Reports.
A genetic anomaly has been spotted by Russian scientists in the study of the “mysterious” case history two-year-old from Ingushetia, came to the doctors with very unusual symptoms. That child is to develop normally the first 8 months of life, and then inexplicably began to lose weight and have lost the ability to walk and crawl.
Moscow specialists performed the analysis of the genome of a child, he showed a deviation from the norm: in the CTNS protein molecule instead of the amino acid tyrosine, the child attended the other cystine. This violation related to the failure on the portion of DNA that is responsible for transportation of molecules of cystine. On the background of this anomaly, the child has developed fructosemia. In this disease the cells are dying EN masse and destroyed internal organs.
According to scientists, fructosemia causing mutations of the CTNS gene are very rare: one of about 200 thousand. On the territory of Russia or the countries of the former USSR mutations like the one that was discovered in the Ingush boy, has never until now was not detected.
In the past the same mutation fixed in a patient in Turkey. Then the medics to save his life when porosimeters outputting cystine from the body. These medicines were used to treat little Russian. They helped to stop the destruction of the kidneys and weight loss, but what will happen is still unknown.
Earlier Magicforum wrote that scientists developed a diet extends human life.