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Elizabeth Fisher

Elizabeth Fisher

Our group has an interest in genetic models of human peripheral neuropathies. In particular we have recently identified a mutation in a gene in a mouse model, which in humans causes a range of clinical phenotypes including one form of Charcot Marie Tooth.

In particular we have recently identified a mutation in a gene in a mouse model, which in humans causes a range of clinical phenotypes including one form of Charcot Marie Tooth.

This mutation results in pathology in distal neurons, generally leading to slow muscle wasting and some sensory loss in the periphery. However, for unknown reasons, in humans it can also result in a much more severe clinical syndrome of very early neurodegeneration leading to death in infancy.

We have been investigating, with other members of the MRC Centre, how the mutation leads to pathology. We have been studying the mutant protein and determined that when present in one copy it appears to function normally, but not when present in two copies. We have also studied muscle function and nerve function in this model, in collaboration with Dr Linda Greensmith of the MRC Centre and Professor Martin Koltzenburg of the MRC Centre. In addition to analysing this specific model of human peripheral neuropathy, we also have access to other models that will enable us to shed light on how mutant genes give rise to neuronal dysfunction and death in these disorders.

Professor Elizabeth Fisher
Department of Neurodegenerative Disease
PO Box 59
Institute of Neurology
Queen Square
London WC1N 3BG
United Kingdon

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Email: prionuclsec@prion.ucl.ac.uk