Scientists from the University of Sydney report that a deformed protein commonly associated with a rare, hereditary motor neuron disease form is also present in other forms of the disorder.
Neuron
This finding provides a clue of a possible common link between all forms of motor neuron disease. In other words, a common factor may play a role in the incidence of the different forms.
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“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,” senior study author Professor Kay Double said.
This research is the first to prove that the said protein undergoes noxious changes in both genetic and non-genetic cases of motor neuron disease. Its results were published in Brain, a journal of neuroscience.
Mutant protein and motor neuron disease
Amyotrophic lateral sclerosis, also called ALS, is the most widespread type of motor neuron disease. Around one in 10 of its cases is inherited while the rest has no visible genetic cause. And an abnormal form of superoxide dismutase 1 (SOD1), a protein, is linked to these hereditary cases.
Under normal circumstances, the SOD1 protein defends cells. A mutation in its gene, however, brings about anomalies in its structure and function. The protein becomes toxic and it is in this form that it is connected to ALS.
Researchers say this abnormal protein is present exclusively in parts of the spinal cord where nerve cell deaths occur.
Focus in earlier research into the role of toxic SOD1 has for the most part been on its mutant forms. Previous studies were mainly conducted with models of ALS in animals and cells.
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Importance of study
In this research, scientists from the Brain and Mind Center at the University of Sydney examined abnormal SOD1 protein in post-mortem tissues from people who had ALS to make their findings.
“We have shown for the first time that mechanisms of disease long hypothesized to occur in animal and cellular models are present in patients with motor neuron disease,” stated Dr. Benjamin Trist, the study’s first author. “This is a significant milestone in our understanding of ALS and motor neuron disease more broadly.”
The new research represents a major step toward improving knowledge about motor neuron disease among scientists. Future researchers can refer to it for their work, which could lead to the development of more successful treatments.
This research team is also getting close to publishing their findings from similar experiments. The expected study looks into how anomalous SOD1 works together with other proteins seen in motor neuron disease to cause a disorder.
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