Researchers from King’s College London have recently completed a study looking into different variations (a change or mistake) within the SOD1 gene and found that understanding the position and type of change within the gene can help to predict onset and progression of the disease.
Genes hold the instructions for making proteins in our bodies, which are responsible for many important functions within our cells. When a mistake (also known as mutations or variations) occurs in a gene, the instructions are different and this can lead to changes in proteins being made. Thirty years ago, in 1993, the first gene associated with MND was discovered. This was the gene called SOD1 named after its known function back then (Superoxide Dismutase). Researchers now know that mistakes in the SOD1 gene are responsible for around 2% of all cases of MND. These mistakes in the SOD1 gene can lead to a faulty version of the protein being made which is toxic and contributes to neurone damage and death in MND.
Since the discovery of the SOD1 gene, many other genes have been linked to MND, including C9orf72, FUS and TARDBP (commonly known as TDP-43). Each of these discoveries provide important clues to what happens in the body during MND and how motor neurones are damaged. They also could help find potential new processes to target within the body for therapeutic intervention.
When mistakes in genes occur, they can happen at different places within the genetic code of the gene. The genetic code can be thought of like a sentence which gives an instruction, and a spelling mistake could occur anywhere within the sentence. For example, there are a range of different variations (mistakes) that can happen with the SOD1 gene.
Researchers at King’s College London have delved deeper into the different variations that can happen within the SOD1 gene. We chatted with Sarah Opie-Martin to find out more about what they found and what it means for the MND community. Watch below to find out more.
MND Register – The MND Register aims to collect information about everyone living with MND in England, Wales and Northern Ireland. This information will make sure everyone living with MND gets access to the care they need but will also help researchers gain new insights into potential causes. The Register is funded by The MND Association. You can find out more on our website.
ALS Online Database – This database, also known as ALSOD, collects information about genes and genetic variants connected with ALS/MND. In the database they provide information on how strong the evidence is to suggest the gene is linked to ALS/MND. You can find out more on the ALSOD website.
United to End MND Campaign/MND virtual institute – This campaign, in November 2021, successfully secured a Government investment of £50 million, over 5 years, for targeted MND research. Part of the campaigns aim is to launch a new virtual MND institute which will connect researchers across the UK in a collaborative push in the fight against MND. You can keep up to date on the campaign on our United to End MND page on our website.
We would like to thank Sarah for her help in putting this blog together and chatting to us.