NLA-funded research published

Every year around 3000 people in the UK develop Acute Myeloid Leukaemia (AML). Over 1000 of these cases will be the result of a mutation in the Nucleophosmin (NPM1) gene, the most common mutation in AML. Normal NPM1 has lots of essential roles in the nucleus (the cells control centre which contains the genetic material) and more specifically is very important in a sub-compartment of the nucleus, called the nucleolus. The nucleolus is responsible for producing and assembling the apparatus which is needed for protein synthesis. We have used special microscopes to image the nucleolus and shown that NPM1 is critical for the correct structure of the nucleolus. Cells with NPM1 mutations have a faulty nucleolus and this leads to incorrect functions. We have also found that mutated NPM1 forms clumps in the cell. The work gives us insights into how NPM1 mutations lead to leukaemia and identify how we may be able to potentially design novel therapies.

The work was chosen as a research highlight of the Journal of Cell Science edition.