Study Reveals Potential Therapy for Rett Syndrome

According to a story from Spectrum News a recent study revealed two potential therapies that could treat symptoms associated with Rett syndrome, a rare disorder. The study involved the creation of a rapid drug screen which scanned for chemicals or other therapeutics that could have a potential benefit for Rett syndrome patients. The study was based on findings that the same research team unearthed in 2016 which revealed that Rett syndrome patients have reduced expression of the KCC2 gene in their neurons.

About Rett Syndrome

Rett syndrome is a brain disorder that become evident early in the lives of its female patients. The disease is caused by a genetic mutation that affects the MECP2 gene. This gene is found on the X chromosome. Boys who have this mutation die soon after being born, so the disorder almost exclusively affects girls. It occurs as a spontaneous mutation in the vast majority of cases, and is rarely inherited from parents. Symptoms include sleeping issues, difficulty speaking, poor coordination, scoliosis, seizures, small head size, slow growth, and repetitive movements. There is no cure for Rett syndrome, and management focuses on maintaining function and alleviating symptoms. Life expectancy for patients is around 40 years. Death often occurs sponatenously, and is often linked to brainstem malfunction, gastric perforation, or cardiac arrest. To learn more about Rett syndrome, click here.

Finding Treatments

The goal was to find substances that could boost the expression of KCC2 back to normal levels, which would have the potential to help treat symptoms of the syndrome. The expression of KCC2 is linked to mutations of the MECP2 gene. The two substances found by the team were able to improve the function of neurons with MECP2 mutations.

The two components that the team discovered were the chemical piperine, which is found in black pepper, and KW-2449, which is an investigational small molecule that is currently being tested against leukemia in clinical trials. They were tested in mice that carried MECP2 mutations and suffered from symptoms comparable to Rett syndrome.

The treatment appeared to improve some of their symptoms, such as breathing and mobility, however, the effect on some other symptoms was less clear. Future research will continue to test the compounds and more clearly determine how they could impact patients.

Check out the original study here.


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