This was identified in affected members of some MND families as well as some isolated MND cases. "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" says Ian Blair, the lead Australian author in the study.

Ninety per cent 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.

Garth Nicholson, a senior author in the study says, "This is an exciting finding that will initiate a new chapter in MND research. Up to now it was not known whether this gene was assisting brain repair or causing the 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".

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 onsets later in life, 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.

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 loss" says 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" stresses Nicholson.

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

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Atherosclerosis or hardening of the arteries" is a chronic disease in which high cholesterol levels coupled with inflammation lead to the build-up of fatty deposits, called plaque, on the inner walls of arteries. Eventually these plaques can limit blood flow, leading to angina, or they may rupture, resulting in blood clots that block arteries and cause heart attacks or strokes.

When the researchers fed an experimental drug that turns on PPAR delta to genetically altered mice that develop the characteristic plaques at an early age, especially when placed on a high-fat diet, mice developed 25 “30 percent fewer plaques. Further studies revealed that PPAR delta not only raises HDL levels but also suppresses the inflammatory response in the artery, dramatically slowing down lesion progression.

Barish and Evans also contributed to a related study, which was led by researchers at the University of California, Los Angeles and published in the same issue of PNAS. Using a different mouse model to mimic the development of atherosclerosis, the UCLA researchers detected an even more pronounced anti-inflammatory effect that slashed the number of aortic lesions by up to 70 percent.

While Barish, a clinically trained endocrinologist, cautions that extrapolating from mice to humans is inherently fraught with complications, he believes that drugs switching on PPAR delta have the potential to protect against obesity, insulin resistance and their associated cardiovascular risks.

The discovery that any orally active compound can delay the progression of heart disease is rare, and considering the importance of the problem, we are hopeful that this work can be quickly carried into the clinic, says Evans.

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