A group of neuroscientists from the United States today presented the results of their new scientific study dedicated to the analysis of such a dangerous and poorly studied neurodegenerative disease as Williams syndrome, in which patients suffer from hyperactivity, cognitive problems and concentration. It is worth noting that the presented disease is quite rare, comprehending only 1 out of approximately 10,000 newborns in the United States – and nevertheless, experts decided to try to reverse the rapidly developing symptoms of this disease using gene therapy using special gene combinations.
Initially, they conducted their clinical experiments on experimental mice that had previously been induced with symptoms and signs similar to those of Williams syndrome – and then tested the possibility of various genes and gene combinations in the recovery of myelin, which is the fatty membrane of neurons that support their work on the transmission of electrical signals in good condition. Previously, they found that a decrease in the myelin layer on neurons just leads to the development of various neurodegenerative and cognitive problems, and therefore decided to study the genetic root cause of this condition – it became chromosome 7, which in the case of this disease loses one of two copies of its segment.
And after conducting a comparative analysis with 25 genes that could potentially restore the myelin sheath, scientists found that only one of them became the best candidate – namely, the Gtf2i gene variation associated with the syndrome.
Scientists, studying the work of this gene in combination with improving the cognitive abilities of patients suffering from Williams syndrome, found that it was he who was responsible for coding transcription factors, which in turn control the expression of other genes associated with hyperactivity and cognitive abilities. Thus, scientists are one step closer to eliminating most of the cognitive symptoms associated with this disease.