Queensland researchers have identified a genetic cause for the buildup of debris in the brain associated with Parkinson’s disease, potentially offering a different focus for treatment of the condition in the future.
Scientists at UQ’s Queensland Brain Institute, using animal and cell models, have identified a mutation in a gene called Endophilin A1, which blocks the process of cleaning away debris such as proteins created as waste by cells.
When this debris builds up it can cause neurons in the brain to get choked off and die, which is one of the causes of Parkinson’s disease. “There is a protein called EndoA which identifies that debris is building up and the body needs to start the process to clean it up,” he said.“For people with the mutation in the Endophilin A1 gene, it doesn’t recognise the signal – it’s like losing the keys to the recycling machine.”
One-in-five of those with the condition are diagnosed before the age of 50, with an estimated 219,000 Australians living with Parkinson’s disease,Bademosi said in around 10 per cent of Parkinson’s cases there was a clear cause, usually a chronic brain injury or other physical damage to the brain which caused the symptoms, including loss of motor functions and impaired speech among other things.
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