Date Published: 27 February 2009

Deciphering motor neuron disease

Health News from Australia.

Dr Ian Blair and Professor Garth Nicholson from the University's ANZAC Research Institute have identified a new gene abnormality that causes the fatal paralysis, motor neuron disease (MND) in families with multiple members affected by the disease.

Until recently the cause of MND was unknown. The newly identified gene encodes a protein, called FUS, which is closely related to the function of another MND protein called TDP-43 (also discovered by the same research teams in 2008 to cause another form of motor neuron disease). Both these proteins slowly build up in neurons and eventually kill them to cause MND. For the first time, a common form of damage that kills motor neurons has been discovered.

This is an important step towards developing effective screening and prevention for this fatal disease as well as finding treatments that prevent or reduce the inexorable progress of this so-far untreatable disease. Work can now commence to develop drugs that target the common damage mechanism aiming to prevent the fatal build up of these proteins.

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 are gradually confined to a wheel chair, and breathing difficulties can follow. The disease can progress rapidly, with death typically 3 to 5 years after onset although there are long living exceptions.

The study, published in the journal Science, was made possible by the dedicated cooperation of families with inherited MND both in Australia and the UK.



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