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Molecular and cellular bases of mental retardation associated with "Fragile X" syndrome

15th National Research Competition in Life and Earth Sciences

Rare diseases

Senior Researcher : José Antonio Esteban García

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Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid

Abstract

This project aims to elucidate the molecular mechanisms responsible for an inherited form of mental retardation known as Fragile X syndrome, for which there is currently no cure. It is proposed that the regulation of the cytoskeleton of the neuron may be altered in these individuals, thus interfering with synaptic plasticity processes and causing disturbances in the cognitive function. For this project a multidisciplinary approach is being used that includes molecular biology, electrophysiology, fluorescence microscopy and analysis of behaviour in mouse models. It is believed that this research project will contribute to the elucidation of the physiological processes that control cognitive function, and in particular to the understanding of the pathological changes that result in the mental retardation associated with Fragile X syndrome.

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