MAY 15, 2018 6:31 PM PDT

Rett Syndrome: Possible Drug Treatment

WRITTEN BY: Nouran Amin

A research study published in Cell Reports explains that a new drug was seen to reduce symptoms of Rett Syndrome in preclinical models while activating dormant neurons, a characteristic of this genetic disorder. The study was led by Dr. Manel Esteller, the Director of the Epigenetics and Cancer Biology Program (PEBC) of the Bellvitge Biomedical Research Institute (IDIBELL) and Dr. Sonia Guil, an investigator at the same research group.

Rett syndrome is one of the most frequent causes of intellectual disability in women second only to Down Syndrome. The main genetic cause of Rett Syndrome is mutations in the embryo that affect the MECP2 gene, which produces a protein known as a regulator for gene expression. As of now, there is no pharmacotherapies for treating this disease and current research is focused on trying to control its most serious phenotypes, such as epileptic and respiratory cries. The study was led by Dr. Manel Esteller, the Director of the Epigenetics and Cancer Biology Program (PEBC) of the Bellvitge Biomedical Research Institute (IDIBELL) and Dr. Sonia Guil, an investigator at the same research group.

Child w/ Rett Syndrome

"We knew for some years that the brains of Rett syndrome girls were inflamed, so we decided to test whether a drug that inhibits a central neuroinflammatory protein called glycogen synthase kinase-3B (GSK3B) could reverse part of the symptoms. As with any experimental treatment, we started with a preclinical model of the disease, studying it in mice that have the same MECP2 deficiency as in human Rett syndrome" explains Dr. Manel Esteller. "The results have been very promising; agent SB216763 has been able to lengthen the life of the animals, significantly reducing tremors, breathing difficulties and mobility limitations. But what is really remarkable is that the inhibition of GSK3B also causes an "awakening" of the sleeping neurons of the syndrome: these brain cells are now beginning to regain contact between them and communication between neuronal synapses increases," explains IDIBELL researcher, and he concludes: "Our findings provide a new way of improving the quality of life of these patients and now it is the neurologists' job to demonstrate their applicability in patients with Rett Syndrome. In any case, we have to be aware that the mutation in the MECP2 gene is still there, and only by correcting it would we arrive at a definitive treatment of the disease."

Source: IDIBELL-Bellvitge Biomedical Research Institute, Science Daily

About the Author
  • Nouran is a scientist, educator, and life-long learner with a passion for making science more communicable. When not busy in the lab isolating blood macrophages, she enjoys writing on various STEM topics.
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