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Comparative RNA editing in autistic and neurotypical cerebella.
1Harvard-MIT Division of Health Sciences and Technology, Cambridge, MA, USA.
Molecular Psychiatry
|August 8, 2012
Summary
Adenosine-to-inosine (A-to-I) RNA editing in synaptic genes is altered in autism. Dysfunctional editing enzymes were more common in autistic individuals, suggesting A-to-I editing may indicate epigenetic risk for autism.
Area of Science:
- Neuroscience
- Epigenetics
- Genomics
Background:
- Adenosine-to-inosine (A-to-I) RNA editing is an epigenetic modification influencing behavior.
- It is a potential link between environmental factors and behavioral outcomes.
- Synaptic function is a key target of A-to-I editing, impacting gene expression.
Purpose of the Study:
- To investigate A-to-I RNA editing in human synaptic genes.
- To explore variations in A-to-I editing in autism spectrum disorder.
- To understand gene-environment interactions in neurodevelopment.
Main Methods:
- Ultra-deep sequencing (>1000×) of 10 synaptic genes.
- Analysis of postmortem cerebellar tissue from neurotypical and autistic individuals.
- Quantification of A-to-I editing levels and correlation with isoform usage.
Main Results:
- A wide dynamic range of A-to-I editing levels was observed across individuals and sites.
- Autism individuals were often at the extreme ends of editing distributions.
- Differential editing patterns and clusters of correlated sites were identified.
- A dysfunctional form of adenosine deaminase acting on RNA B1 was more prevalent in autistic cerebella.
Conclusions:
- A-to-I RNA editing in synaptic genes shows population-level variation in human cerebellum.
- Altered A-to-I editing patterns are associated with autism.
- A-to-I editing may serve as a biomarker for epigenetic risk in autism.
