Three new susceptibility genes in MND identified

26 November 2007

Susceptibility genes are variations in specific genes that alter the risk of developing a disease. Many common diseases arise through complex interactions between the environment and susceptibility genes.

Towards the end of the second day of the 18th International Symposium on ALS/MND researchers from The Netherlands and the UK respectively presented their latest results on the search for these elusive susceptibility genes.

Analysing DNA samples from people with MND and healthy individuals from around Europe and the USA Michael van Es from Utrecht presented the results of some whole genome studies. The promise of Whole Genome Association studies is that they allow researchers to identify novel genetic risk factors for sporadic ALS/MND by screening all the variations in the human genome in an unbiased way.

He found that variations in two genes – one regulating calcium release in a compartment within motor neurones known as ER and the other that regulates the activity of proteins specifically found in neurones - were found in DNA samples from people with MND but not in unaffected people.

In a separate study, Dr Tripathy based at the Institute of Psychiatry, King’s College London shared the identity of another protein variation specifically found in people with MND. After identifying the function of the protein, known as ELP3, Dr Tripathy found that the activity of ELP3 protein was lower in the brains of people with MND compared to unaffected individuals.

The preliminary results from both of these studies are exciting - finding susceptibility genes increases our knowledge of what goes wrong in diseased motor neurones, which may ultimately lead to new treatments.

Mel Barry Communications Manager
01604 611887/07918 652201
mel.barry@mndassociation.org

The 18th International Symposium on ALS/MND is taking place in Toronto, Canada, between Saturday 1 and Monday 3 December. The event is organised by the UK-based Motor Neurone Disease (MND) Association and hosted this year by the ALS Society of Canada.

The MND Association says:

The MND Association is currently funding a whole genome association study in ALS/MND. This project will narrow the search for genes that contribute to MND to a few “hot spots”, which can then be carefully searched, letter by letter, for disease-related “spelling mistakes."