News / Spectrum

X chromosome inactivation; motor difficulties in 16p11.2 duplication and deletion; oligodendroglia

Here is a roundup of autism-related news and research spotted around the web for the week of 6 May.

By Jill Adams
7 May 2024 | 2 min read
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https://doi.org/10.53053/CTVA8046 https://doi.org/10.53053/CTVA8046 - opens a new tab Cite this article
  • Three overarching patterns of gene transcription involved in brain development inform how autism and schizophrenia emerge from altered scripts. Nature Neuroscience
  • Mice missing the autism-linked gene SHANK3 show changes in the spatial and molecular organization of postsynaptic densities. Molecular Psychiatry
  • More brain cells in female mice have active X chromosomes from their mother (60 percent) than from their father (40 percent), which results in more fragile X syndrome-like behaviors in female offspring when gene variants are inherited maternally. Cell Reports
  • MECP2 gene variants that cause Rett syndrome lead to altered RNA polymerase interactions and DNA binding and, ultimately, decreased gene expression. Neuron
  • Inherited factors contribute to 87 percent of autism cases in boys and 75.7 percent in girls, suggesting differing underlying causes overall. JAMA Psychiatry
  • Gene variants that are associated with autism but have only moderate effects often co-occur with other moderate-effect-size genes, leading to large effects, according to a preprint. medRxiv
  • People with 16p11.2 deletions are more likely to have gross-motor impairments and less likely to have fine-motor impairments than people with 16p11.2 duplications. Autism Research
  • Oligodendroglia contribute to the myelination of neuronal axons in mice; but deletion of the autism-linked SCN2A gene alters this process and leads to hypersensitivity in auditory pathways, according to a preprint. bioRxiv
Research image of neuronal axons in mice.
Under covered: Loss of SCN2A in oligodendroglia (right panel) leads to thinner myelin sheathing and larger axon diameter compared with wildtype mice (left panel).
  • A coding system can automate measures of rate of speech and conversational turns in minimally verbal autistic children. Autism Research
  • In mice missing the SHANK3 gene, restoring HCN2 channel activity early in development ameliorates the sensory and sleep problems that are typical in this animal model of autism. Cell Reports Medicine

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