Researchers at the Hadassah clinic and Jerusalem's Hebrew University have discovered a previously unknown gene defect leading to a severe neurological illness.
The disease caused by the gene occurs in children aged 3-7 years and, in the event that they live to 15, leads to a complete loss of legal capacity.
The researchers found that all the patients had problems with the gene responsible for the production of ribosomal RNA (ribozomes are responsible for transcription and protein formation, and they themselves consist of RNA and proteins that correspond to each other in a very precise proportion). As a result of the problem with the gene, the cell becomes clogged Excess RNA ribozoma and thus "poisoned".
According to Professor of the Jewish University Orly Elpeleg, the disease was not previously identified as a disease. And it was discovered only during the treatment of a three-year-old girl in Israel, who for some unknown reason had motor problems, speech, severe cognitive disorders.
Scientists have found her certain genetic defects, which, it was found during the checks, were found in other children from Russia, Canada, the United States and France, who had similar symptoms.
The results of the study were published in a journal on human genetics, American Journal of Human Genetics.
As member of the group of researchers Orly Elpeleg stated, the science can not yet correct the gene, but the discovery of the defect causing the disease is an important step. "If you have a name, there will be a medicine. If there is no name, there will be no medicine, "the scientist said. +