In April 2016, Dr Jackie Mitchell gave a talk at the Regional Conference in Gatwick to explain the aims of her three year MND Association funded research project. We have now received her second year report. In this blog we explain a little bit more about what she’s been doing. She has already made some good progress.
A little bit of background
One known genetic cause of MND is a defect in the TARDBP gene, which makes the protein TDP-43, that can be found in the nucleus of a healthy cell. The nucleus is the part of the cell that contains all our DNA. Healthy cells also have two major ‘waste disposal systems’ which break down and remove unwanted proteins from cells. More information on the role of TDP-43 in MND can be found on our blog.Read More »
Prior research has already shown that build-up of the protein TDP-43 is found in the majority of cases of MND (irrespective of whether it was caused by an inherited genetic mistake). In healthy nerve cells, TDP-43 is normally found in the cell nucleus (the management centre of the cell). But when we look at nerve cells from people with MND, we see that the TDP-43 has left the nucleus and moved to the main body of the cell and clumped together. We do not know why this happens, or how it leads to cell damage in MND.
In nerve cells, old proteins are ‘tagged’ for breaking down and disposal (or recycling). We have an idea that TDP-43 may impact on this process.
To investigate how TDP-43 causes motor neurones to die, Dr Jacqueline Mitchell and her team at King’s College, London have created several new mouse models to investigate how TDP-43 causes motor neurones to die in MND (our grant reference: 828-791).Read More »