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Establishing the Molecular Basis of the Neurodevelopmental Features of TSC

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Technical Report,15 Mar 2019,14 Mar 2020

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Kings College London London SE5 9NU United Kingdom

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Tuberous sclerosis complex TSC is a dominant genetic disorder caused by mutations in the genes TSC1 and TSC2 and characterised by benign tumours in multiple organs. The neurological manifestations of TSC, including epilepsy and autism, have a particularly early onset and have the greatest morbidity. Mutations in Tsc12 result in activation of the highly conserved mechanistic target of rapamycin mTOR pathway. We recently identified the protein Unkempt as the first downstream component of the mTOR pathway to regulate neuronal differentiation in Drosophila. In this project we are testing the hypothesis that Unkempt is a key downstream regulator of mTOR complex 1 mTORC1 in the developing mammalian nervous system and that misregulation of Unkempt contributes to the neurological manifestations of TSC. During this research period we have performed in depth characterisation of Unkempt phosphorylation by mTORC1, generated phospho-specific antibodies against Unkempt and analysedquantitied the expression of neurodevelopmental markers in Unkempt conditional knockout mice.

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  • Medicine and Medical Research

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