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‘Abnormal’ Protein Could Be Common Link Between All Forms of Motor Neuron Disease - Neuroscience News

‘Abnormal’ Protein Could Be Common Link Between All Forms of Motor Neuron Disease - Neuroscience News

‘Abnormal’ Protein Could Be Common Link Between All Forms of Motor Neuron Disease - Neuroscience News
Aug 14, 2022 1 min, 44 secs

Summary: A new study reports that abnormalities in the SOD1 protein are a common factor in all types of motor neuron diseases.

Researchers have found an abnormal protein usually linked to a rare inherited form of motor neuron disease is present in all types of motor neuron disease, suggesting a common link between the different forms of the disease.

Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease.

“The results suggest this abnormal protein contributes to cell death in many forms of motor neuron disease, not just rare genetic cases of motor neuron disease,” says senior author Professor Kay Double from the Brain and Mind Center, Faculty of Medicine and Health.

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.

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

“This is a significant milestone in our understanding of ALS and motor neuron 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 neuron disease.

Altered SOD1 maturation and post-translational modification in amyotrophic lateral sclerosis spinal cord.

We employed histological, biochemical and analytical techniques to profile alterations to SOD1 protein deposition, subcellular localization, maturation and post-translational modification in post-mortem spinal cord tissues from ALS cases and controls

Tissues were dissected into ventral and dorsal spinal cord grey matter to assess the specificity of alterations within regions of motor neuron degeneration

We provide evidence of the mislocalization and accumulation of structurally-disordered, immature SOD1 protein conformers in spinal cord motor neurons of SOD1-linked and non-SOD1-linked familial ALS cases, and sporadic ALS cases, compared with control motor neurons


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