Grant: Project Grant

How do changes in cholesterol affect individuals with Fragile X syndrome? This understanding of both causes and impacts will help to improve treatment approaches. Fragile X syndrome (FXS) is the most common genetic cause of autism and mental retardation. Currently, there's no specific treatment. Individuals with FXS often face various health issues, including obesity. Surprisingly, they tend to have lower cholesterol levels in their blood compared to healthy individuals. Since cholesterol is vital for brain development and function, this finding needs further exploration. This research project aims to investigate whether cholesterol levels in the brains of children and young adults with FXS are lower compared to healthy ones. Since direct measurement of brain cholesterol in living humans is not feasible, we will use a new method to look at related molecules called oxysterols in their blood. This approach allows an indirect estimation of the cholesterol levels in the brain. To elucidate the underlying mechanisms behind these possible differences, a transcriptomic study on peripheral blood mononuclear cells will be conducted. The latter will help determining any transcripts related to cholesterol that are differentially expressed in FXS compared to healthy individuals. Finally, the levels of oxysterols and relevant transcripts will be correlated with the clinical profile of FXS individuals to evaluate their impact. Understanding these findings could shed light on how cholesterol affects FXS and help identify patients who might benefit from treatments targeting cholesterol-related issues. This could ultimately lead to better management and therapies for FXS.