Abnormal protein could be a common link between all forms of motor neurone disease – University of Sydney

Abnormal SOD1 protein detected in human spinal cord tissue (dark spots) Trist et al. 2022.

Normally, the protein superoxide dismutase 1 (SOD1) protects cells, but a mutation in its gene is thought to make the protein toxic; this toxic protein form is associated with hereditary forms of ALS. Abnormal mutant SOD1 is only found in regions of the spinal cord where nerve cells die, implicating this abnormal protein in cell death.

Previous investigations into the role of toxic forms of SOD1 protein largely focussed on mutant forms of the protein and were primarily conducted using animal and cellular models of ALS.

The study, led by a team from the University of Sydneys Brain and Mind Centre, advances our understanding of the causes of motor neurone disease by studying this abnormal protein in post-mortem tissues from patients with ALS.

We have shown for the first time that mechanisms of disease long hypothesised to occur in animal and cellular models are present in patients with motor neurone disease, says lead author Dr Benjamin Trist from the Brain and Mind Centre, Faculty of Medicine and Health.

This is a significant milestone in our understanding of ALS and motor neurone disease more broadly.

In related experiments, Professor Double and her team are also currently studying how abnormal SOD1 interacts with other disease-linked proteins in motor neurone disease. This work is in press and will be published in Acta Neuropathologica Communications.

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Abnormal protein could be a common link between all forms of motor neurone disease - University of Sydney