Motor Neurone Disease: an endless nightmare

By Justin Yerbury
Updated November 5 2012 - 10:40pm, first published June 23 2010 - 5:42am

Have you ever had a dream where no matter how hard you try it is impossible to move your body, and when you call out for help you don't make a sound? This is a frightening experience that people wake from, in a pulse-racing panic. Imagine that this has happened to you, but you could not wake from the dream. This is how a patient with Motor Neurone Disease (MND) lives through the last stages of their life.MND is characterised by a rapid loss of neurones that control voluntary muscles. Sufferers progressively lose the ability to use various muscles, leading to an inability to walk or pick up objects; even feeding oneself becomes impossible. Ultimately the act of breathing becomes too onerous for the already frail body, and sadly the disease ends in death within one to five years of diagnosis. These confronting thoughts are the realities faced by around 1400 Australians with MND and thousands more, such as carers, families and friends, constantly living with its impact. On average at least one person dies from, and another is diagnosed with, MND each day in Australia.In the Illawarra one in 12,000 people is affected by MND. The cause of most cases of MND is unknown and only 10 per cent of all cases are inherited with certainty. Even though several specific genes have been linked to the inherited disease, a large proportion of inherited or "familial" cases are not linked to a particular gene. Epidemiological studies have not identified clear causative agents for the remaining 90 per cent of sporadic MND. However, we know that MND affects males and females at the same rate and prevalence is not based on ethnicity or demographic variables apart from age. The average age of onset is about 50, however cases have been reported in adults as young as 21. Environmental factors can play a role in disease onset, as researchers have found increased incidences among various populations such as the Chamorro people of Guam (where in the 1950s MND rates were 50 times higher than expected), in Gulf War veterans and professional football (soccer) players in Italy.There is no effective therapeutic to stop progression or prevent onset of MND. Rilutek, a drug approved in MND treatment, offers for most only a modest effect, generally described as a three-month life extension. MND is sometimes referred to as an orphan disease because it has not been "adopted" by the pharmaceutical industry. Sadly, the small number of patients worldwide means it provides smaller financial incentives to produce and market new drugs.At the Illawarra Health and Medical Research Institute work is in progress to determine the underlying mechanisms that cause MND to help fight the disease. One project is examining the role of damaged proteins in motor neurone death. Like most biological molecules, proteins are constantly being made, used, and disposed of in neurones. Tight regulation of this process means that if a protein is damaged it is normally disposed of rapidly. A trait of motor neurons in MND is that proteins accumulate into deposits - large "junk piles" that cells are unable to dispose of. We hope to discover how these "junk piles" are killing cells and believe this work may identify processes that underpin MND.These studies, underway in our Illawarra region, may take us one step closer to finding a cure for this devastating disease.

  • Justin Yerbury is a research fellow at the University of Wollongong and a member of the Healthy Ageing Research Theme of the Illawarra Health and Medical Research Institute.
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