Researchers believe that the disruption of a single gene in the brain can cause the severe cognitive deficits associated with Angelman syndrome, a neurogenetic disorder often misdiagnosed as cerebral palsy or autism because of its similar symptoms: intellectual and developmental delay, severe mental retardation, lack of speech, seizures, sleep disturbance, hand flapping and motor and balance disorders. This gene is related to brain plasticity—the ability of the brain to strengthen neuronal pathways so that we can learn and adapt to a changing environment. The syndrome “prevents brain circuits from encoding information provided by sensory experiences.”

The exciting news is that they found some of this plasticity can be restored:

An unexpected finding was that the plasticity of the cellular connections could be restored in visual areas of the brain after brief periods of visual deprivation. Philpot said the observation that the brain defect could be reversed ‘is very encouraging, as it suggests that viable behavioral or pharmacological therapies are likely to exist.’

‘By showing that brain plasticity can be restored in Angelman syndrome model mice, our findings suggest that brain cells in Angelman syndrome patients maintain a latent ability to express plasticity. We are now collaborating to find a way to tap into this latent plasticity, as this could offer a treatment, or even a cure, for Angelman syndrome,’ said Philpot.

Philpot added, ‘This same experimental approach could also reveal how brain cells encode information from experiences in other related disorders, such as autism, and may provide a model to find cures for a variety of neurodevelopmental disorders.'”

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