Catherine Abbott is Professor of Mammalian Molecular Genetics at the University of Edinburgh’s Institute of Genetics and Molecular Medicine.
All cells need to make new proteins in order to survive. We work on a molecule – called eEF1A2 – that carries out a pivotal role in this process.
THE TRANSLATION FACTOR
My lab works on a gene that is mutated in some people with autism, epilepsy and intellectual disability. This gene is responsible for making a protein called eEF1A2 which makes all other proteins in nerve cells. The process of making new proteins is called translation, and in eEf1A2 is a translation factor. Unusually for a translation factor, it is not found in all cells in the body but is instead confined to nerve and muscle cells.
People who have been found to have mutations in this gene have a mutation in only one copy of the gene; the other is normal. In every case the parents do not have the mutation themselves, so it has arisen spontaneously in the individual concerned.
Each of the mutations in eEF1A2 that have been found to cause epilepsy, learning difficulties and/or autism change just one of the building blocks – known as amino acids – out of nearly 500 that make up the eEF1A2 protein.
Everyone of these building blocks must be really important for the normal function of eEF1A2 in nerve cells. We are modelling these amino acid changes in the lab to try and find out exactly how these changes cause autism and intellectual disability.
To read more about Professor abbott’s work visit the lab blog here