MND Association funded study finds new clues to genetic causes of MND

A study, part funded by the MND Association using money raised by Walk to d’feet MND, and in collaboration with the ALS Association and other funding bodies, has found another genetic mistake that can cause a rare, inherited form of the disease.

This is the third MND Association co-funded research project that has resulted in the identification of a previously unknown genetic cause of MND.

The new research suggests that mistakes (mutations) in a gene called ‘D-amino acid oxidase’ or ‘DAO’ for short, is the cause of MND in a family that is affected by a rare, inherited form of the disease.

By comparing these results to other families with the inherited form of MND as well as people with the sporadic form and people who do not have the disease, this specific genetic mutation could not be found. The results however, do provide further clues as to the possible underlying causes of all types of MND.

Dr Brian Dickie, our director of research development, says: "Identifying definitive causes of MND, no matter how rare, is of vital importance. It will allow scientists to compare one form of MND with another, to more rapidly identify events that dictate whether a motor neurone lives or dies, no matter what the original cause of the disease is. It serves as a springboard for much greater understanding of MND - and it is through this understanding that effective treatments will be developed."

What does this research mean to somebody affected by MND?

Mutations in the DAO gene are extremely rare and so far, have only been identified in one family that is affected by the inherited form of MND. This discovery will help us to gain a deeper understanding of what causes all types of MND. Investigators believe that discovering the genetic cause of familial MND will lead to a better understanding of what is going wrong in the more common, sporadic form of MND – as sporadic and familial MND are clinically indistinguishable, scientists believe that the mechanisms underlying both types of disease might be similar as well.

Further information

You can find out more about this research news on our website at: http://www.mndassociation.org/news_and_events/our_news/new_clues_to_mnd.html. For further information about this research news please contact our research development team on  01604 611880  01604 611880 .