Edinburgh Research Explorer

Prof Catherine Abbott

Personal Chair of Mammalian Molecular Genetics

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Willingness to take Ph.D. students: Yes

Education / Academic qualification

1987Doctor of Philosophy (PhD), MRC Mammalian Genetics Unit, Harwell
1983Bachelor of Science, University of Reading
Pathobiology

Biography

I did my first degree in Pathobiology and then my PhD in Biochemical Genetics at Reading University and MRC Harwell. I then moved to London to do a postdoc at the MRC Biochemical Genetics Unit based in the Galton Laboratory at University College London. After 3 years I was appointed as a lecturer at UCL, where I set up my own lab and ran a number of undergraduate courses in human genetics. In 1993 I moved to Edinburgh, initially at the MRC Human Genetics Unit and then from 1996 as a lecturer at the University of Edinburgh. I am heavily involved in postgraduate supervision and am the director of the IGMM Graduate School where I run a 4 year PhD program. My research is focused on specific molecules involved in epilepsy, autism, intellectual disability and neurodegeneration. 

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

Research Interests

We work on translation elongation factor eEF1A which carries out a pivotal role in protein synthesis. Although translation factors are generally ubiquitously expressed and highly conserved (consistent with their fundamental housekeeping role), eEF1A is unusual in that two independently encoded isoforms with distinct tissue-specific expression patterns are found throughout vertebrate evolution.  Whereas eEF1A1 is expressed in all tissues throughout development, it is downregulated postnatally to undetectable levels in muscle and neurons whilst remaining at high levels in all other tissues. In muscle (skeletal and cardiac) and neurons eEF1A1 is replaced by eEF1A2, which is 92% identical and 98% similar to eEF1A1. The question of why this very specific change from one eEF1A isoform to another occurs, and the functional consequences of the switch, is of fundamental biological importance. We are also interested because eEF1A2 has a vital role in a whole range of diseases, from motor neuron degeneration and muscle atrophy (when it is absent) to cancer (when it is inappropriately expressed). The recent discovery of missense mutations in eEF1A2 in individuals with severe intellectual disabilities, autism and epilepsy has led us in new and exciting directions.

Research Groups

Richard Chin, Iris Oren, Michael Cousin and Michael Daw (Muir Maxwell Centre for Epilepsy Research, University of Edinburgh)

David Harrich, QIMR Berghofer Medical Research Institute, Queensland

Evgeny Nudler, New York University

My 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 .

Current Research Interests

  • 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 activities & awards

  1. Member

    Activity: Business and communityMembership of public/government advisory/policy group or panel

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