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Prof. Cathy Abbott

Organisation Associations

School of Population Health Sciences
Centre for Genomic and Experimental Medicine
Euan MacDonald Centre for Motor Neuron Disease Research
Edinburgh Neuroscience
Institute of Genetics and Cancer
School of Neurological and Cardiovascular Sciences

Current research interests

  • Mutations in eEF1A2 that cause epilepsy, autism and intellectual disability
  • Genome editing and model systems for studying neurodevelopmental disorders and neurodegeneration
  • The role of translation elongation factor switching in neurons and motor neuron disease
  • translation elongation factors in neuronal and synaptic function 
  • epilepsy, autism and intellectual disability resulting from mutations in eEF1A2
  • motor neuron degeneration and specifically the role of eEF1A1 in the stress response

Research in a nutshell

All cells need to make new proteins in order to survive. We work on a molecule that is needed for this process, called eEF1A. It occurs in two different forms (called eEF1A1 and eEF1A2) in vertebrates. All normal adult cell types contain just one version of eEF1A, either eEF1A1 or eEF1A2. The second form is found in muscle, heart and nerve cells, but absolutely all other cell types contain the first form. The exception to this is cancer cells, which can contain both forms. Many types of tumour, particularly breast and ovarian tumours, show overexpression of eEF1A2 even though you don’t find it in the equivalent normal tissue. On the other hand, when eEF1A2 is absent this causes motor neurons, the nerve cells in the spinal cord that tell your muscles when and how to move, to die.

We are trying to work out why muscle and nerve cells switch off eEF1A1, even though it is found everywhere else, and replace it with eEF1A2, which is very nearly, but not quite, identical. We think it must be that long lasting, stable cell types have subtly different needs. It is important to understand both how the switch between forms occurs (i.e. what factors control this switch), and also why, because eEF1A is involved in a whole range of diseases, from cancer and viral infection to epilepsy, autism and motor neuron degeneration .

Full research profile, including publications