Here’s how Bagni describes what she’ll discuss during the session:

Fragile X syndrome is the most common form of heritable intellectual disability and known monogenetic cause of autism. The vast majority of those affected by fragile X have a mutation in the gene encoding the fragile X mental retardation protein (FMRP). This protein is a master regulator of mRNA metabolism in the brain and plays a crucial role at synapses (neuronal junctions). Despite recent advances in understanding the pathophysiology of fragile X, there is still no cure for the condition. 

In this webinar, I will review how the absence of FMRP perturbs brain wiring during embryonic and postnatal development as well as the formation and plasticity of synapses. More than 100 brain diseases called synaptopathies are caused by mutations in proteins that work at synapses. Fragile X syndrome is one of these conditions. I will explain how two intertwined processes — the remodeling of the cytoskeleton (the cell’s scaffolding) and local protein synthesis — are crucial for establishing lasting changes at synapses that underlie learning, memory and behavior. Finally, I will discuss the incidence of cancer in individuals with fragile X syndrome and other intellectual disabilities.

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