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Japanese Study Identifies RABGGTB as Novel Gene Linked to Autism

Epigenetic profiling of the brain's dorsal raphe nuclei reveals DNA methylation changes, offering insights into autism's molecular underpinnings and potential diagnostic avenues.

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Overview

  • Researchers from Japan conducted genome-wide DNA methylation analysis on postmortem brain samples from individuals with autism spectrum disorder (ASD) and neurotypical controls.
  • The study identified hypermethylation of OR2C3 and HTR2C, genes tied to sensory processing and serotonin signaling, in ASD brain samples.
  • A previously unrecognized gene, RABGGTB, exhibited hypomethylation and increased expression, highlighting its potential role in neuronal health and autism pathology.
  • RABGGTB is absent from existing autism gene databases, such as SFARI, positioning it as a novel candidate for further research into ASD etiology and biomarkers.
  • The findings emphasize the need for integrated transcriptomic studies and in vivo models to validate these epigenetic insights and explore their diagnostic and therapeutic potential.