Motor Neurone Disease
What is Motor Neurone Disease?
Motor Neurone Disease (MND) is a term given to a group of related brain disorders that result from the steady loss of nerve cells (motor neurons) that control muscle movement and function. Motor neuron failure can lead to muscle weakness and wasting.
Unfortunately, MND often does not become evident until many nerve cells have died, which means most patients undergo rapid deterioration shortly after diagnosis. Premature death often occurs due to the loss of nerve cells that control breathing.
In more than 95 per cent of cases the cause of MND is unknown. However, in a small number of cases the condition is genetic, with the patient inheriting an altered gene.
At this stage there is no therapy to reverse the effects of the disease or to prevent its progression.
Motor Neurone Disease facts
- Approximately 1,400 Australians are living with Motor Neurone Disease (MND)
- From diagnosis the average life expectancy is 2-3 years
- At least one Australian dies and another is diagnosed with MND every day
- The onset of MND can occur between the ages of 20 and 70, with the average age of onset being 59 years
- Most people experience motor problems in a single limb or area before the condition spreads throughout their body.
Source: MND Australia
University of Queensland
Clinicians and Researchers at the University of Queensland (UQ) are using a multidisciplinary approach to improve the understanding of Motor Neuron Disease. There are a number of MND research programs based at UQ using a variety of scientific platforms to elucidate the cause and progression of this disease.
UQ Schools and Institutes supporting MND research include:
- The Institute for Molecular Biosciences (IMB)
- The Queensland Brain Institute (QBI)
- The Centre for Clinical Research (UQCCR)
- School of Molecular and Biological Sciences (SBMS)
- Australian Institute of Bioengineering and Nanotechnology (AIBN)
- The Centre for Advanced Imaging (CAI)
A small proportion of MND patients carry mutations in the superoxide dismutase (SOD1) gene and earlier research has found transgenic mice carrying the mutant SOD1 gene undergo progressive motor neuron loss. As such, QBI researchers are now investigating ways of preventing cell death associated with MND in SOD1 mice.
Additionally, researchers are assessing the usefulness of MRI for monitoring disease progression, searching for MND biomarkers in patient blood samples and understanding the role of the TDP-43 protein aggregation. TDP-43 is a DNA binding protein involved in gene regulation – its function in the nervous system is currently unknown and its role in the pathogenesis of MND remains unclear.
IMB is co-leading Australia's largest collaborative project in the search for new risk genes and therapies to treat MND using whole genome analysis to collectively identify new risk genes. Comprising 16 researchers from nine MND centres across Australia, as well as international collaborators, the consortium will build an integrated infrastructure to collect and analyse biological samples and clinical data.
With MND treatment still a long way off, early diagnosis and the subsequent management and care of the patient are critical. UQCCR is currently working with MND patients to determine whether MND-specific biomarkers exist in the blood and whether these markers can be used to predict the course of the disease.
MND research at the Queensland Brain Institute is possible largely because of their many donors, including Peter Goodenough and Ross Maclean. The Peter Goodenough and Wantoks Research Laboratory and Ross Maclean Senior Research Fellowship are named respectively in their honour.
If you would like more information about MND, or require support, please contact MND Australia on 02 9816 5322 or firstname.lastname@example.org
This content is provided for informational purposes only. It is not a substitute for professional medical advice, diagnosis or treatment. If you have any concerns or questions about your health, please consult a suitably qualified healthcare professional.