“ADNP is a significant gene in neurodevelopmental disorders. With this new tool to study its function, we can work towards finding and testing new treatments,” says Dr. Pierre Mattar (right).More than 100 genes are linked to neurodevelopmental disorders, but how they contribute to brain development is unclear. Dr. Pierre Mattar’s team has discovered why the ADNP gene has such a large impact.
Their research in mice, published in PNAS, shows ADNP influences more than 50 other genes linked to neurodevelopmental disorders. It’s also crucial for developing upper-layer neurons which coordinate cognitive functions by sending signals between the left and right sides of the brain.
Previously, studying ADNP was difficult because genetic mutations were lethal in mice. The team created a new mouse model with a different mutation that allowed them to study the gene's role in the brain. Next, they will examine how the ADNP mutation affects mouse behavior and test if drugs targeting the mutation can reduce some of the effects.
“ADNP is a significant gene in neurodevelopmental disorders. With this new tool to study its function, we can work towards finding and testing new treatments,” says Dr. Pierre Mattar, the Clifford, Gladys and Lorna J. Wood Chair for Research in Vision and senior scientist at The Ottawa Hospital, and assistant professor at the University of Ottawa.
Authors: Samuel Clémot-Dupont, José Alex Lourenço Fernandes, Sarah Larrigan (pictured), Xiaoqi Sun, Suma Medisetti, Rory Stanley, Ziyad El Hankouri, Shrilaxmi V. Joshi, David J. Picketts, Karthik Shekhar, and Pierre Mattar (pictured).
Core resources: StemCore Laboratories, Ottawa Bioinformatics Core Facility, Cell Biology and Image Acquisition Core Facility, Animal Care and Veterinary Service
Funding: SFARI Pilot Award, Brain & Behavior Research Foundation, Canadian Institutes of Health Research, Society of Hellman Fellows, McKnight Foundation, New Frontiers in Research Fund, Canada Foundation for Innovation.
The Ottawa Hospital is a leading academic health, research and learning hospital proudly affiliated with the University of Ottawa and supported by The Ottawa Hospital Foundation.
