New findings on autism-related disorder

In a study published today in Nature, Marc Bühler and his group at the Friedrich Miescher Institute for Biomedical Research (FMI) have taken a major step forward in elucidating the mechanisms underlying a disorder known as Helsmoortel-Van der Aa syndrome. They clarify the role played by ADNP - a protein whose gene is mutated in patients with the syndrome - in the formation of tissues during embryonic development. The study provides important insights into a disorder that has been poorly understood to date, and for which no treatment is yet available. Helsmoortel-Van der Aa syndrome is a rare condition, affecting an estimated 1 in 27,000 children. The mutations in the gene encoding ADNP (activity-dependent neuroprotective protein), which are responsible for this disorder were only identified in 2014. In addition, little is known about the disease mechanism - including the function of ADNP itself, except that it plays a role in the development of the brain. However, children with this syndrome may exhibit a wide variety of symptoms, including impairments of vision and the immune system, as well as motor and behavioral disturbances.