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Mutation found in neurodegenerative pathway

Researchers have identified a molecular pathway mutation that is the likely cause of several untreatable, neurodegenerative diseases with overlapping symptoms.

The genetic mutation mechanism shared by the group of 20 diseases, including Huntington’s disease, typically leads to nerve cell death. Researchers now say this is due to repeat sequences of RNA multiplying above the normal threshold and being misinterpreted by the immune system as foreign, causing the shut down of cell function.

It’s expected this discovery will enable scientists to define targets for therapeutic intervention which may help reduce the amount of nerve cell degeneration in sufferers or slow its progress.

Read more at University of Adelaide

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