Researchers from the Sheffield Institute for Translational Neuroscience (SITraN) at the University of Sheffield have uncovered a new function of the C9orf72 protein. A paper on their work has recently been published in the EMBO Journal.
A change or mutation to the C9orf72 gene is linked to about 40% of cases of inherited MND. We also know that changes to this gene also occur in a type of dementia called frontotemporal dementia (FTD). However, the reasons behind this link have so far been unclear.
One of the main research routes towards explaining the link between the C9orf72 gene and MND is to work out the normal function of this gene. By studying the protein the gene produces, researchers can see how alterations to this protein and the processes it is involved with result in nerve cell damage in MND.Read More »
PhD student Emma Smith has recently started the second year of her MND Association-funded research project at the Sheffield Institute for Translational Neuroscience (SiTRAN) in Sheffield (our project reference: 870-792). With her supervisors Dr Kurt De Vos and Dr Andrew Grierson she is investigating the role of mitochondria in C9orf72-related MND.
Mitochondria are the cell’s batteries, providing them with energy. Earlier research has linked damage to mitochondria as a contributor to why motor neurones die in MND. Based on preliminary evidence, the team are aiming to find how the C9orf72 protein causes damage to the mitochondria, where it happens and what might be done to prevent it.Read More »