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A deadly burdenMotor neurone disease is a painful and deadly burden for its sufferers. Scientists in the Monash Institute for Neurological Diseases are advancing the quest for a cure, discovers DAVID BRUCE In the United States it is known as Lou Gehrig’s disease, after the great New York Yankees baseball player who was struck down with a paralytic illness in his prime in the late 1930s. In other parts of the world, variants of the disease have taken the lives of other famous people including Mao Tze Dong and actor David Niven, but the distinguished astrophysicist Stephen Hawking continues to defy the odds. Motor neurone disease takes many forms. Its causes are unclear and there is no cure. Lou Gehrig’s Disease, or amyotrophic lateral sclerosis (ALS), is a particularly virulent form that suddenly strikes otherwise healthy bodies in middle age. ALS is a progressive neurodegenerative disease that kills motor nerve cells in the brain and the spinal cord. Although motor neurone diseases do not strike populations in great numbers – about 700 people in Australia have a form of the disease – their onset is swift and deadly. While there are some exceptions, most sufferers are dead within two to five years.
This group of organic chemists, pharmacologists and pre-clinical drug evaluation specialists are developing and testing a range of drugs to see if they can slow down the onset of ALS in mice that would ordinarily develop an ALS-like disease because they carry the mutant human SOD1 gene. Several drugs have been found to delay the degeneration of motor neurones in these mice. The next stage of the research will treat the SOD1 mice to determine if they can live even longer and with a reduced severity of the disease. According to Dr Cheema, from the Department of Anatomy and Cell Biology, the recent characterisation of the human genome will accelerate the pace of research. "This collaboration at Monash has already obtained interesting results using state-of-the-art proteomic technology that can identify which proteins could be triggering the disease. From this we are able to design and develop a new generation of drugs for the treatment of not only ALS but also neurodegenerative diseases in general." A combination of skills has characterised this research. Dr Cheema has teamed with Dr Steven Langford, an organic chemist from the Faculty of Science, and Professor Phillip Beart and Dr Steven Cheung from the Department of Pharmacology to move the research through from the "laboratory bench to the pre-clinical stages". With a new PNA synthesiser about to arrive in Dr Langford’s laboratory – the basic tool to make a new generation of drugs and the only one of its type in Australia – the MND research is set to increase its pace. Dr Langford says that by drawing on all their expertise, the team is able to engage in rational drug design to develop novel drug compounds. "Dr Cheema identifies a certain genetic sequence he wants made into a synthetic drug, I develop the drug compound, and Professor Beart looks at how effective it is by rapid screening using nerve cell cultures. Once a target is identified, Dr Cheema administers the drugs to his mice that develop the ALS-like disease." But despite the intensity of the laboratory work, the team is unlikely to lose sight of the human element. "All members of my team visit patients with motor neurone disease so we can appreciate the human face of this devastating disease," explains Dr Cheema. "MND doesn’t affect people in numbers like Alzheimer’s or Parkinson’s, but we all see how these people live and I know I really want to spend the rest of my research career coming to a better understanding of this disease and hopefully find a drug that makes a difference. You don’t know how awful ALS is until you see someone with it." ACTION: The Motor Neurone Disease Association of Victoria seeks volunteers to provide support services for people living with MND. It can be contacted on +61 3 9830 2122 or email info@mnd.asn.au |
Eight years ago, scientists in the United States identified a mutant
gene that seemed to play a role in the onset of ALS. This gene, called
SOD1, is inherited in about three per cent of human ALS cases. SOD1 is
now the focus of group of scientists, led by Dr Surindar Cheema, working
within the Monash Institute for Neurological Diseases.