Paper - Review

DOI: 10.1038/s41593-018-0287-x

Abstract

Transcriptomic analyses ← of post-mortem brains
→ have begun → to elucidate molecular abnormalities
← in autism spectrum disorder (ASD)

❓: A crucial pathway ← involved in (synaptic development)
← e.g. RNA editing
→ has NOT yet been studied ← on a genome-wide scale

❗: profiled → global patterns of adenosine-to-inosine (A-to-I) editing
← in a large cohort of post-mortem brains ← of people with ASD

Observed → a global bias → for hypo-editing in ASD brains
← was shared ← across brain regions
← involved many synaptic genes

The Fragile X proteins → 1⃣ FMRP 2⃣ FXR1P
→ interact with RNA-editing enzymes
→ modulate A-to-I editing

Observed → convergent patterns of RNA-editing alterations
← in 1⃣ ASD 2⃣ Fragile X syndrome
∴ A molecular link ← between these related diseases

Our findings
← are corroborated ← across multiple data sets
→ highlight RNA-editing dysregulation in ASD
→ reveal new mechanisms underlying this disorder

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