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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Researchers believe ATDC has potential as a target for developing future therapies. It could also help doctors determine when a patient has pancreatic cancer and when it's chronic pancreatitis, a diagnosis that's often difficult to make without surgery. In some cases, this may allow patients to avoid an operation.

ATDC also appears to be involved in other cancer types, including bladder cancer and lung cancer. Researchers are continuing to investigate its role. This research was done in the laboratory. No tests or therapies related to ATDC are available at this time.

Pancreatic cancer statistics: 37,680 Americans will be diagnosed with pancreatic cancer this year and 34,290 will die from the disease, according to the American Cancer Society.

Additional authors: Lidong Wang, David G. Heidt, Cheong J. Lee, Huibin Yang, Eric R. Fearon and Mats Ljungman from U-M; Craig D. Logsdon from M.D. Anderson Cancer Center; and Lizhi Zhang from the Mayo Clinic.

Funding: National Institutes of Health, Lustgarten Foundation

Reference: Cancer Cell, Vol. 15, Issue 3, pp. 207-219

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