New Motor Neuron disease gene discovered

3 March 2008
In a world first, Australian researchers from the ANZAC Research Institute at Concord Hospital and the University of Sydney, in collaboration with colleagues at Kings College London, have found a new gene abnormality that causes the fatal paralysis, motor neuron disease (MND).

“Although the abnormal gene is only present in a small number of cases, the exciting aspect of this discovery is that it codes for a protein that is actually abnormal in all MND cases,” said Dr Ian Blair, the lead Australian author in the study. Dr Blair is a Senior Lecturer in the Concord Clinical School and a senior research scientist at the ANZAC Research Institute.

Ninety percent of MND cases are sporadic, while the remainder occur in families as an inherited disease. This newly identified abnormality causes both familial and sporadic forms of MND.

“This is an exciting finding that will initiate a new chapter in MND research,” said Professor Garth Nicholson, a senior author in the study and leader of ANZAC’s neurobiology program. “Up to now, it was not known whether this gene was assisting brain repair or causing death of nerve cells.”

The gene, called TDP-43, has previously been shown to form abnormal protein aggregates in nerve cells of MND.

“The discovery of families and sporadic cases with faulty versions of this gene now proves its involvement in the disease,” Professor Nicholson said.

MND causes the death of motor nerves (neurons) that extend from the brain and spinal cord to all the muscles in the body, controlling the ability to move, breathe, eat and drink. People with MND, which usually occurs later in life, are gradually confined to a wheel chair and breathing difficulties can follow. The disease can progress rapidly, with death typically three to five years after onset, although there are long living exceptions.

Work has now commenced to understand how the abnormal gene causes MND.

“This offers a rare window of opportunity to find how this protein becomes toxic and causes motor neuron disease,” said Dr Blair. “This will have crucial implications for understanding MND as a whole.”

There are no effective treatments for MND. “This is an important step in a long term effort to identify better diagnostic tools and effective treatments,” professor Nicholson said.

The study, published in the journal Science, is culmination of over 10 years of research, assisted by the families with MND, through the ANZAC Research Institute.

ANZAC Research Institute is based at Concord Hospital, and is an institute of the University of Sydney. It’s primary research theme is ageing.

CONTACT: Julie Taranto 02 9767 9191