Rett syndrome gene discovery offers hope for treatment
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Huda Zoghbi began researching Rett syndrome after meeting a patient in Texas during her medical residency in the 1980s. She and her team eventually identified the MECP2 gene as the cause of the condition in 1999.
Rett syndrome primarily affects girls, causing loss of language and motor skills starting around age two, alongside autism and neurological problems. Researchers discovered the MECP2 gene resides on the X chromosome and controls how genes are expressed.
Zoghbi’s work with mice revealed that completely removing the MECP2 gene replicated symptoms seen in people with Rett syndrome, and that restoring the gene in adult mice could reverse those symptoms. Her team found the gene is crucial not only during brain development, but also for ongoing synaptic development and plasticity, the brain’s ability to change and adapt, after birth. They determined that even small changes in the amount of MECP2 protein, around 30 percent, can lead to neurological issues.
Zoghbi and other scientists are now testing several treatments for Rett syndrome. These include deep brain stimulation in mice, early behavioral interventions to prevent regression in girls, and antisense oligonucleotides in clinical trials for boys with MECP2 duplication syndrome, a related condition. This research also connects to autism, as disruptions in similar genes affecting synapse development and plasticity can also contribute to the condition.
