This research project is being carried out by Dr. Judith Sleeman, at the University of St Andrews
We know that there are a variety of genetic factors which could influence whether someone develops MND or not, with a number of gene mutations having been discovered, but we don’t yet know how cells are actually damaged. Without knowing this key part of the puzzle, developing therapies is very difficult.
The most important roles in cells are carried out by proteins. Many proteins, including those involved in MND, have a number of different functions and need to be in specific parts of the cell to carry out these functions properly. The location of proteins within cells, and their behaviour, is influenced by chemical changes – including a process called ‘methylation’.
A variety of different MND gene mutations are thought to affect methylation of proteins in cells. The protein produced by the FUS gene, which is mutated in some cases of MND, is methylated differently in MND patients. We have now shown that this mutated form of FUS can also alter the methylation of other proteins in the cell. The team will investigate changes in protein methylation seen in MND and will aim to discover how these changes could cause damage in MND.
If you're interested in learning more about MND Scotland-funded research projects, please contact us at firstname.lastname@example.org or call on 0141 332 3903.