Rett Syndrome is a disorder that mainly affects females, causing intellectual disability, physical disabilities and often seizures.

Rett Syndrome shares several features with other mitochondrial diseases, where there are impairments in mitochondria – the structures found within brain cells that are responsible for producing energy. Without properly functioning mitochondria in Rett Syndrome, there is a decrease in energy production and an increase in the production of toxic oxygen compounds within the brain.

Dr. James Eubanks and his colleagues have been examining ways to target and potentially stop the damage from these mitochondria, which may improve the symptoms of Rett Syndrome. Dr. Eubanks found that anti-oxidant treatment (used to decrease the presence of toxic oxygen compounds) helped to improve walking movements and social behaviours in mice with Rett Syndrome symptoms.

These results suggest that anti-oxidant treatments may be useful in the management of symptoms associated with Rett Syndrome. While further research is required to determine the best combinations of anti-oxidants to reach the full effectiveness of treatment, the results from this work have opened the door for a small scale clinical trial in children with Rett Syndrome in the near future. Discussions for this clinical trial are now underway with the Ontario Brain Institute.

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