RNU4-2 gene; autism screening in Kenya; Rett syndrome gene therapy

Here is a roundup of autism-related news and research spotted around the web for the week of 10 June.

  • Autism research has a tension between those studying its biology and those advocating for more support and acceptance, writes Science editor-in-chief H. Holden Thorp, who recently disclosed that he himself is autistic. Science
  • Each of five different autism-linked genes plays a role in the migration of enteric neurons in Xenopus frogs, suggesting a common biological underpinning for gastrointestinal problems in autism, according to a preprint. bioRxiv
  • The RNU4-2 gene, which encodes a nuclear RNA that is part of the spliceosome, appears to be linked to intellectual disability. Nature Medicine
  • The Social Communication Questionnaire is a useful autism screen in rural Kenya, with good sensitivity and specificity. Spectrum has previously covered the efforts of several investigators on this project, including Patricia Kipkemoi’s work with the Neurodev project. Journal of Autism and Developmental Disorders
  • Cerebral organoids containing integrated microglia can model transcriptional and structural changes caused by inflammatory mediators, according to a preprint. Spectrum reported on similar findings by other researchers in 2021. bioRxiv
Research image of cerebral organoids.
Immune boost: Cerebral organoids develop more mature neurons when microglia are present (bottom row) than when they are absent (top row). From left to right: progenitor cells, mature neurons, and merged.
  • Resting-state electrophysiology may serve as a reliable biomarker of brain activity in people with fragile X syndrome. Spectrum has previously covered the search for fragile X biomarkers to aid drug trial evaluation. Biomarkers in Neuropsychiatry
  • Zinc plays a key role in SHANK3 functioning to organize the structure of glutamate synapses. Mice missing ZNT3, which encodes a zinc transporter, have unusually small dendritic spines and show autism-like behaviors. Journal of Neuroscience
  • A multisite cohort study—the European Autism GEnomics Registry (EAGER)—aims to create a registry of autistic people who have undergone whole-genome sequencing. BMJ Open
  • An experimental gene therapy for Rett syndrome, called NGN-401 and produced by Neurogen, is slated for development in concert with the U.S. Food and Drug Administration’s START program. Rett Syndrome News