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Author Spotlight: A Battery of Highly Reproducible Behavioral Tests to Validate an Angelman Syndrome Murine Model
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Electrophysiological Phenotype in Angelman Syndrome Differs Between Genotypes
Joel Frohlich1, Meghan T Miller2, Lynne M Bird3
1Neuroscience, Ophthalmology and Rare Diseases, Roche Innovation Center, Roche Pharma Research and Early Development, Basel, Switzerland; Center for Autism Research and Treatment, Semel Institute for Neuroscience, University of California, Los Angeles, Los Angeles.
Biological Psychiatry
|March 4, 2019
Summary
Angelman syndrome (AS) with deletions shows distinct EEG patterns, including higher theta and lower beta power. These findings suggest non-UBE3A genes contribute to AS severity and pathophysiology.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- Angelman syndrome (AS) is a severe neurodevelopmental disorder.
- AS results from UBE3A gene disruptions or chromosome 15 deletions (15q11-q13).
- The pathophysiology of AS, especially in deletion cases, is not fully understood.
Purpose of the Study:
- To investigate if genes on chromosome 15, other than UBE3A, contribute to differing pathophysiology in Angelman syndrome genotypes.
- To test the hypothesis that non-UBE3A genes influence AS clinical presentation.
Main Methods:
- Compared electroencephalography (EEG) spectral power in children with AS deletion genotype (n=37), nondeletion genotype (n=21), and typically developing controls (n=48).
- Analyzed clinical EEG recordings from children aged 1-18 years.
- Focused on spectral power across various frequency bands (delta, theta, beta).
Main Results:
- Deletion genotype exhibited elevated theta power (5.3 Hz) and diminished beta power (23 Hz) compared to the nondeletion genotype.
- Both AS genotypes showed excess broadband EEG power (1-32 Hz) peaking in the delta range (2.8 Hz), more pronounced in deletion cases at younger ages.
- Significant differences in EEG oscillations were observed between AS genotypes.
Conclusions:
- Results strongly support the role of non-UBE3A genes in the pathophysiology of deletion AS.
- Hemizygosity of the GABRB3-GABRA5-GABRG3 gene cluster likely causes abnormal theta and beta EEG oscillations, contributing to a more severe AS phenotype.
- This research enhances understanding of AS pathophysiology and informs AS treatment and biomarker development.
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