Abstract
Fragile X syndrome (FXS) is the most common inherited cause of autism and intellectual disability and is characterised by loss of Fragile X messenger ribonucleoprotein (FMRP). Most research has focused on how this loss affects brain cells, but new evidence suggests it also plays an important role in immune cells.
The immune system, and in particular T lymphocyte cells, have been identified as a key players in brain development. T cells do not only defend the body against infections, but also help shape brain connections and influence learning and behaviour. When T cells are absent or do not function properly, brain development can be disrupted, leading to changes similar to those seen in autism. In FXS, both patients and mouse models show signs of immune dysfunction, suggesting that T cells may contribute to the neurological problems.
This project aims to uncover the T cell dysfunction underlying FXS and link T cell dysfunction to FXS presentations, including brain development delay, behavioural abnormalities and increased susceptibility to infection. By identifying what goes wrong in the immune system, we aim to dissect novel disease mechanism which can be targeted adapting the available immune therapies. In the long term, this research hold the potential to guide the development of tailored immunotherapies that support healthy brain development in FXS, and also reduce the infection-related complications of FXS patients.
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