The mechanisms underlying intellectual disabilities or autism remain largely unknown. Researchers in the labs of Prof. Pierre Vanderhaeghen and Prof.
Vincent Bonin at the VIB-KU Leuven Center for Brain & Disease Research and NERF have discovered that mutations in a gene called SYNGAP1 disrupt the prolonged development of human neurons, which is thought to be essential for normal cognitive function. Their work has interesting implications for our understanding and treatment development for intellectual disabilities or autism and appears in Neuron . The human brain is notable among mammals for its remarkably prolonged development.
Unlike in other animals, neurons in our brain, particularly in the cerebral cortex-the primary site of cognitive functions-take years to fully mature. This process, known as neoteny, is thought to be critical for developing some of the advanced cognitive functions characteristic of our species. Disruptions in this prolonged development could underlie some forms of intellectual disability and autism.
Until now, this hypothesis had never been tested in human neurons. A window into the maturing brain Introducing the gene SYNGAP1. Previous studies found that mutations in this gene are a major cause of these conditions.
However, the specific effects of its disruption on human cortical neurons remained largely unknown. Until recently, a major obstacle in studying human brain developmental diseases was the lack of reliable experimental methods to observe hum.