The researchers «Adasi» and the Hebrew University in Jerusalem for two years studied the disease that occurs in children aged 3-7 years. If they live to 15 , you lose capacity. Dozens of children suffering from rare diseases, were screened around the world, and they all had discovered the same gene defect.
In all patients, the researchers found problems with the gene responsible for the production ribosomalnogo RNA (ribosome responsible for transcription and protein formation. They consist of RNA and proteins, which are linked to each other in very precise proportions). A result of problems with the gene, the cell becomes clogged extra RNA ribosome and thus «poisoned».
The result of research was published in the journal human genetics American Journal of Human Genetics. In his article, scientists describe how they have solved the cause of the disease of children from Israel, Russia, Canada, USA and France.
Orly Elpeleg Professor from the Hebrew University and head of the group of researchers from «Adasi» notes that the disease had not previously been identified as a disease and not mentioned in textbooks. Attention of researchers was attracted to the case of three girls who came for treatment in the «Adas». The girl had signs of disease appeared completely incomprehensible dysfunction in the sphere of motor skills, she gradually lost the ability to speak, she developed severe cognitive impairment. Parents were shown the child to doctors in several medical centers in Israel, but none of the doctors could not understand what is happening with the baby, the press service of the research center at the hospital, «Hadassah».
At the same time in the «Adas» has started to apply the new advanced technology of DNA sequencing. This allowed the scientists to read the genome of a girl and find she has the gene defects responsible for her child’s health.
«This check is performed in the «Adas» in 2010. We conduct the gene sequencing of every child,» said Professor Elpeleg. As a result, in «Adass» there is a Bank of genetic maps 2400 patients and the staff began to check if there are patients with similar symptoms. «To our surprise, we found one such child with a genetic defect, says Professor Elpeleg. It was amazing – a girl 9 years old, which we treated earlier, now lives in Russia, she has the exact same symptoms 5 years. At this stage it became clear to us that we found a new disease, which in the textbooks said nothing. Not yet said.»
«Dr. Edvardson, pediatric neurologist, flew to Russia, checked out the girl, got her blood test and confirmed that both patients of the same disease. The data was submitted to the international gene Bank, and in a few hours we found 4 children around the world who have attended this genetic defect. And the same symptoms. Up to a certain age they were completely healthy, then there was a dramatic deterioration. To understand the mechanism of the disease and fully confirm its existence, we started to work with the laboratory of the University of Pennsylvania in the US, and there we were helped confirm our hunch about the mechanism of action of the disease: in the cells of sick children there is an excess ribosomalnogo DNA, which leads to necrosis of brain cells,» continues Professor Elpeleg.
«The disease affects children, who develop normally. Perfectly healthy children, at first glance, begins to limp, forget words and gradually turn into children with severe defect, and then become completely incapable,» says the Professor.
The researchers note that the presence of a defective portion of a gene may in the future become the key to treatment of disease. Science still can’t fix the gene, but may be able to stop it reproducing.