Nature Communications (Oct 2021)

mTOR-related synaptic pathology causes autism spectrum disorder-associated functional hyperconnectivity

  • Marco Pagani,
  • Noemi Barsotti,
  • Alice Bertero,
  • Stavros Trakoshis,
  • Laura Ulysse,
  • Andrea Locarno,
  • Ieva Miseviciute,
  • Alessia De Felice,
  • Carola Canella,
  • Kaustubh Supekar,
  • Alberto Galbusera,
  • Vinod Menon,
  • Raffaella Tonini,
  • Gustavo Deco,
  • Michael V. Lombardo,
  • Massimo Pasqualetti,
  • Alessandro Gozzi

DOI
https://doi.org/10.1038/s41467-021-26131-z
Journal volume & issue
Vol. 12, no. 1
pp. 1 – 15

Abstract

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Autism spectrum disorder (ASD) is characterised by synaptic surplus and atypical functional connectivity. Here, the authors show that synaptic pathology in Tsc2 haploinsufficient mice is associated with autism-like behavior and cortico-striatal hyperconnectivity, and that analogous functional hyperconnectivity signatures can be linked to mTOR-pathway dysfunction in subgroups of children with idiopathic ASD.