A New Genetic Entry Point for Autism Traits
Neuroscience News • • health
Key Points:
- Researchers identified the X-linked long non-coding RNA gene PTCHD1-AS as a contributor to core Autism Spectrum Disorder (ASD) traits, specifically affecting social interaction and repetitive behaviors in males without impacting cognitive functions like learning or memory.
- PTCHD1-AS differs from most ASD-linked genes as it regulates gene expression rather than encoding proteins, highlighting a distinct biological pathway influencing ASD's hallmark behaviors.
- Mouse models lacking PTCHD1-AS exhibited increased repetitive behaviors and altered social interactions while maintaining normal attention and memory, pinpointing the striatum as the brain region affected.
- Disruption of PTCHD1-AS impaired synaptic plasticity and myelination in the striatum, linked to decreased protein kinase C activity in a cortical-striatal circuit, elucidating molecular mechanisms underlying ASD behaviors.
- This discovery offers a new target for studying ASD biology and developing precision therapeutics focused on core behavioral traits, advancing understanding beyond protein-coding gene models.