Neuron Type-specific Gene Loss Linked to Angelman Syndrome Seizures
The results suggest further lines of research related to the effects of neurodevelopmentally critical genes on other kinds of neurons.
The gene UBE3A plays a major role in neurological development at an early age. If an overexpression of UBE3A occurs, autism ensues for the patient. In contrast, a lack of functioning by the UBE3A gene causes what is known as Angelman syndrome (AS). This is a neurodevelopmental disorder that is characterized by severe developmental delay, motor deficits, absence of speech and most commonly epilepsy. In a recent study, restoring function of the UBE3A gene in mice to prevent seizures from occurring was unsuccessful. This suggests that the timing on gene expression or inexpression is very important. “Our study has helped determine that UBE3A loss specifically from GABAergic neurons is what’s critical for seizures in Angelman patients,” Judson said. “But UBE3A loss from other neuron types may drive other phenotypes associated with the condition. This remains to be explored.” Click here to read more.
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