No effective therapies exist for Angelman's syndrome, a neurodevelopmental disorder that can cause seizures, sleep disorders, speech problems and motor control issues. Patients do not express a functional copy of the enzyme ubiquitin-ligase E3A (UBE3A), which marks old proteins in the brain for breakdown. As a result, proteins accumulate in the brain, interfering with neuronal function.In rodents and humans, neurons express UBE3A only from the maternal copy because translation of the father's copy of the gene is repressed. The disorder is therefore the result of mutations or deletions in the maternal copy of the gene. People with Angelman's syndrome have a normal copy of the gene from their fathers, suggesting that 'un-silencing' the dormant paternal copy in neurons might prevent the disorder.
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