February 24, 2009

experts comment on research into new gene for motor neurone disease as published in Science

Researchers at the Institute of Psychiatry at Kings College London have discovered the second gene involved with motor neurone disease in as many years.

Dr Belinda Cupid, Research Manager, MND Association, said:

“This is the second MND-causing gene to be identified in less than 12 months, a reflection of the accelerating pace of research around the world.

“Not only will it open up an entirely new avenue of scientific investigation, it will also allow researchers to compare the different known causes of MND and start to home in on the main biochemical events that cause motor neurones to die. This understanding will lead to new approaches to defeat this cruel disease.”

Prof John Hardy, Professor of Neuroscience, Institute of Neurology, University College London, said:

“Finding genes which cause rare forms of MND is extremely important. First, of course, it directly helps us counsel those families with the mutations, but more generally it should help us to understand disease mechanisms. In this case, the gene FUS appears to be related to another one, TDP43 which was found to have MND causing mutations by researchers from the Institute of Psychiatry last year, so we now seem to be building a pathway to disease which involves at least these two genes. In the longer run, knowing the pathway to disease will help us to both make animal models of the disease and also to design therapies to intervene in this pathway. This finding is an important early step in the road to developing treatments for this devastating disease.

“The IoP group have really been the leaders in this – 2 genes in 2 years is remarkable and they deserve huge acclaim.”

Prof Christopher Shaw, Professor of Neurology, Institute of Psychiatry, Kings College London and co-author of the paper, said:

“The new gene, called FUS, is a very important clue as to what causes motor neurons to degenerate.
It links in with TDP-43, which is deposited in motor neurons in 90% of all people with MND, in which we found mutations last year.

“The genetic pieces of the jigsaw puzzle are beginning to fit together leading us in new and exciting directions of research. There are also major implications for diagnosis and treatment.”