Many genes linked to autism disrupt the same developmental pathways during embryonic development and the first two weeks of life, according to a new study in mice. As the animals mature, those shared changes give way to more gene-specific phenotypes, suggesting that the underlying pathways shift over time. Different autism mouse models showed similar developmental […]
Deep focus: Subcortical brain structures contribute to autism more than previously appreciated, according to two new preprints. One study used single-cell RNA sequencing to identify altered gene expression and found that excitatory neurons in the thalamus and hypothalamus are particularly enriched in autism-linked genes, along with cortical regions. The other study used a different method […]
Hundreds of compounds counteract specific behavioral effects of autism-linked gene variants in zebrafish, according to a new study that, its authors say, could guide precision gene-based medicine for some forms of autism. Many new drugs under investigation for the condition prove ineffective in clinical trials—in part because of its genetic and clinical heterogeneity. “A medication […]
Sleeping flies: Gene variants linked to autism may also give rise to differences n sleep behaviors, according to two new Drosophila studies. In one study, flies with FOXP variants exhibit “severely fragmented and reduced sleep,” in addition to disruptions in circadian rhythms. In the other, a preprint, investigators engineered flies with NLGN3 variants and found […]
Autism has long been seen as a single—if highly heterogeneous—condition. But rather than one continuous spectrum, there are distinct autism subtypes, each tied to its own genetic signature, a new study suggests. The research, published 9 July in the journal Nature Genetics, connects genetic differences to specific patterns in how autism traits appear, supporting the […]
Kettle of fish: More than two dozen strains of zebrafish with autism-linked gene variants share overlapping developmental pathways that lead to differences in social behavior, brain activity patterns and brain size, according to a new study. Molecular drivers of the differences include altered function in neuropeptide signaling, neuronal maturation and cell proliferation, which the authors […]
Social skills: Tendencies to engage in groom soliciting, solitary play or sitting alone are highly heritable among macaques. Courtesy of Emory University / Marie Collantes Some aspects of rhesus macaques’ social behavior are strongly shaped by genetics, with differences tied to variants in autism-linked genes, according to a new study. The findings may shed light […]
Ready riser: Mouse cells that harbor a bioluminescent version of MECP2 also express a red fluorescent tag after pharmacological reactivation of the X chromosome (bottom), which is normally silenced. Courtesy of Mira-Bontembal and Tan, et al. A new mouse model may accelerate the discovery of gene-activating therapies to treat Rett syndrome, a condition related to […]
Growth spurt: An autism-linked mutation shifts the balance of excitatory (pink) and inhibitory (green) neurons during development. Mutations in three genes strongly associated with autism shift the pace at which certain inhibitory and excitatory neurons develop, according to a study published today in Nature. The findings reveal a novel point of convergence by which the […]
research summary Cells expressing the oxytocin receptor gene variant A218T, which is implicated in autism, are altered in their receptor activity and regulation of other genes, including 429 autism-related genes. Molecular Psychiatry Autistic children and adolescents have unusual electroencephalographic features during sleep that may affect memory consolidation. sleep A parent-led intervention for young children with […]
Alternate Game: Over half of the genes expressed in the human cortex, including some associated with autism, have more than one transcript isoform. Researchers have discovered thousands of new alternative versions of RNA, or isoforms, of genes expressed in the brain, including some implicated in autism, according to a new study. Several of the RNA […]
Voice connection: Zebra finches and other birds that learn songs carry mutations near genes that are often mutated in autism. Courtesy Lomax Boyd Genes that appear to play a role in song learning in some birds are often mutated in autistic people, according to a new study. The results show the value of studying the […]
