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Emily Singer

A View from Emily Singer

The Genes Behind Down Syndrome

Scientists have pinpointed crucial genes within the duplicated chromosome that trigger the disorder.

  • July 19, 2010

People with Down syndrome carry an extra copy of chromosome 21. But it has been unclear which genes within this dense package of DNA are responsible for the disorder, which includes mental retardation, early onset Alzheimer’s disease and other health problems. In a paper published today in Nature Neuroscience, researchers identified two crucial genes, called Olig1 and Olig2, involved in Down syndrome. Reducing the activity of these genes in mice engineered to mimic the disorder helps correct abnormal brain activity in these animals, a problem that is also present in people with the disorder.

“We hope the findings will lead to better strategies for early intervention, even during the pregnancy, to reduce neurological consequences of Down syndrome,” said Zygmunt Galdzicki, associate professor of Anatomy, Physiology and Genetics at Uniformed Services University of the Health Sciences, in a statement from the university. “These findings show the need to do more human studies and also suggest that Olig1 and Olig2 inhibitors may have a potential therapeutic role for Down syndrome individuals.”

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