Motor neurone disease (MND; also known as amyotrophic lateral sclerosis and Lou Gehrig's disease) is a progressive degenerative disease that affects muscular function. Its hallmark is the selective death of motor neurons in the brain and spinal cord, which leads to paralysis of voluntary muscles. Motor neurons are nerve cells located in the brain and spinal cord that control and provide instruction for the movement of those muscles we use to move, speak, swallow and breathe. With the progressive death of these neurons, muscles become paralysed and they waste away (atrophy). Death is caused by respiratory failure, which typically occurs within 2-5 years of developing this debilitating condition.
At the diagnostic stage, most people have little or no prior knowledge of MND and are devastated to find they have a fatal disease without a cause or treatment. As the disease process advances, patients become reliant on others for assistance with activities of daily living. This can be physically and emotionally demanding for families and carers and patients can experience feelings of guilt, frustration and hopelessness.
Garvan's research into MND
One of Garvan's research groups is working from the knowledge the only approved therapy for MND, directly or indirectly blocks molecules in the spinal cord called glutamate receptors. Blocking these receptors seems to slow motor neuron loss that leads to paralysis. However, as there are many types of glutamate receptors in the spinal cord and it is not yet known which of these are important for MND progression, Vissel’s researchers are systematically undertaking genetic studies in mice that carry a genetic mutation that causes motor neuron disease. The studies are directed at progressively blocking each of the receptors, one at a time, in the hope of extending the lifespan of the mice in order to refine the therapeutic approaches for treating motor neuron disease.
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