Gene behind Down syndrome heart defects identified

A gene that causes heart defects in Down syndrome has been identified by researchers at UCL and the Francis Crick Institute. The team found that reducing the overactivity of this gene partially reversed these defects in mice, paving the way for potential future therapies for heart conditions in people with Down syndrome. Down syndrome affects around 1 in 800 new births and is caused by an extra third copy of chromosome 21. About half of babies born with Down syndrome have heart defects, such as a failure of the heart to separate into four chambers, leaving a 'hole in the heart'. If the heart defects are very serious, high-risk surgery might be needed soon after birth and people often require ongoing monitoring of the heart for the rest of their life. Consequently, better treatment options are needed, and this must be guided by knowledge of which of the extra 230 genes on chromosome 21 are responsible for the heart defects. Co-author, Professor Elizabeth Fisher (UCL Queen Square Institute of Neurology), said: "This project exemplifies how we can work with mouse models that replicate aspects of a disorder to better understand the genetic mechanism of the disease in humans.