Investigating dopamine signaling in Fragile X syndrome

Fragile X syndrome is the most common known inherited cause of intellectual disability and one of the leading known genetic causes of autism. Many people living with the condition struggle to adapt their behavior to new situations and often show repetitive patterns of behavior.

The researchers aim to understand what happens in the brain when the cells’ normal protein recycling processes stop functioning properly and how this affects communication between nerve cells.

Francesco Longo, researcher at the Institute of Neuroscience and Physiology, University of Gothenburg: “We are trying to understand why the brain has greater difficulty shifting between behaviors in Fragile X syndrome and which biological mechanisms underlie these difficulties.”

Studying the brain’s signaling pathways

The project is based on studies of neuronal signaling systems and mouse models of Fragile X syndrome. The researchers are investigating how changes in the brain’s signaling pathways are linked to repetitive behaviors and difficulty adjusting to change.

The project has received $100,000 in funding from the U.S.-based FRAXA Research Foundation, which supports research on Fragile X syndrome.

Charlène Perian, researcher affiliated with the Institute of Neuroscience and Physiology, University of Gothenburg: “This funding allows us to pursue questions that would otherwise have been difficult to investigate and to test new hypotheses about the brain’s signaling systems in Fragile X syndrome.”

The researchers hope that, over time, the findings will contribute to a better understanding of Fragile X syndrome and support the development of future treatments for people with Fragile X syndrome and other neurodevelopmental conditions.