Researchers reduced symptoms of Williams Syndrome in study

A group of neuroscientists is working on animal studies with mice that are investigating a rare neurological condition called Williams Syndrome. In humans, Williams Syndrome is rare affecting about 1 in 10,000 babies born in the US. Babies suffering from this neurological disorder have a range of cognitive impairments, cardiovascular problems, and hypersociability.Neuroscientists from MIT have gained insight into the molecular mechanisms that cause the hypersociability, or extreme friendliness. The scientists found that one of the genes linked to Williams Syndrome leads to a thinning of the fatty layer of insulation around neurons that helps conduct electrical signals in the brain.

The ability to reverse the symptoms of the disease by boosting the production of the coating known as myelin may reverse some of the symptoms in the disease. This discovery is a big deal not only for treating Williams Syndrome but also for more common conditions that are caused by the loss of myelin. Notably, the discovery also has the potential to help in treating autism spectrum disorders.

Williams Syndrome is caused by the loss of one of the two copies of a segment of chromosome 7 and can result in learning impairments, particularly in tasks that need visual and motor skills. Some people with the disorder exhibit poor concentration and hyperactivity while being more likely to experience phobias.

The team focused more specifically on 25 genes in this study known as Gtf2i and linked that gene to the hypersociability seen in Williams Syndrome. The team found this gene encodes a transcription factor that controls the expression of other genes. About 70% of those genes with reduced expression levels had to do with the process of myelination. In mice, the symptoms of the neurological condition were reduced when treated with drugs that improve myelination.