Scientists have managed to uncover some factors on Williams syndrome

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A group of neuroscientists from the United States today presented the results of their new scientific study on the analysis of such a dangerous and poorly studied neurodegenerative disease, such as Williams syndrome, in which patients suffer from hyperactivity, problems with cognitive abilities and concentration. It is worth noting that the presented disease is quite rare, comprehending only 1 of approximately 10,000 newborns in the US – and yet, the experts decided to try to reverse the rapidly developing symptoms of this disease with the help of gene therapy using special gene combinations.

Initially, they conducted their clinical experiments on experimental mice, which had previously induced symptoms and signs similar to those in Williams syndrome – and then tested the possibility of various genes and gene combinations in restoring myelin, which is the fatty membrane of neurons that support their work on the transmission of electrical signals in proper condition.

Previously, they found that the reduction of 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 was the best candidate — namely, the Gtf2i gene variation associated with the syndrome.

Scientists, studying the work of this gene in conjunction with improving the cognitive abilities of patients suffering from Williams syndrome, found that he is 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.

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