Research digest: In this week’s roundup, we’re sharing papers that study gene-dosage effects, alternative splicing of the NRXN1 gene and sleep problems in autistic youth. We spotted two items, both from the same Yale University group, that investigate behavioral effects in SHANK3-deficient mice: One reported a decrease in sociability when the gene was down-regulated in […]
A gene therapy that compensates for a missing copy of SYNGAP1, a gene strongly associated with autism, diminishes hyperactivity and brain activity linked to epilepsy, according to a new study in mice. The therapy also normalizes brain-wave patterns linked to learning, memory, attention and sensory processing. “This is the first published study to use a […]
A temporary increase in neuronal activity in the cortex of newborn mice leads to social deficits in adulthood, according to a new preprint. Those adult rodents also show changes in brain electrical activity, gene expression and connectivity that are reminiscent of autism. The analysis lends support to a prominent hypothesis of autism’s origins, which holds […]
By compensating for a missing copy of SCN2A, one of the genes most strongly linked to autism, a variant of the gene-editing technology CRISPR can reduce susceptibility to seizures, according to a new study in mice. SCN2A haploinsufficiency—in which gene variants cause someone to have just one functional copy of SCN2A instead of the usual […]
Upstream movers: Mice deficient in the autism-linked gene CHD8 have altered structure and function of excitatory neurons, synapses and circuits, according to a new study. The animals developed atypically large heads, consistent with a similar effect observed in humans with CHD8 variants. But this macroencephaly was not accompanied by more or bigger neurons. Still, glutamate-containing […]
Cell save: Deleting one copy of TSC1 in only Purkinje cells (red) reduces activity in those cells and alters social behavior in mice; a brief treatment with rapamycin seems to block these effects.Courtesy of Peter Tsai Briefly suppressing an overactive signaling pathway in juvenile mice that have an autism-linked mutation blocks them from developing some […]
Sex differences: Male model mice raised in enriched environments had less severe behavioral problems than their female peers. Photography by Richard Drury Angelman syndrome model mice have fewer-than-expected behavioral and motor problems if they grow up in a stimulating enclosure, filled with toys and other enrichments, according to a new study. The mice are missing […]
Pruning: Neurons from mice lacking one copy of ASH1L (third row) do not prune away as many synapses (bottom row) as control neurons (top and second rows) after stimulation. Loss of the autism-related gene ASH1L leads to excess synapses and autism-like behaviors in mice, according to a study published today in Neuron. Increasing the activity […]
Social Boost: In a mouse model with impaired social behavior, an oxytocin injection activates a specific set of circuits. publisher’s Note This article was originally published as Conference Proceedings from the 2021 Society for Neuroscience Global Connectome Meeting on January 13, 2021. The results have since been published in Neuron. Infusions of the hormone oxytocin […]
Boosting the Immune System: Changes in a mother mouse’s gut microbiome can induce an overactive immune response in her pups. IKELOS GmbH/Dr. Christopher B. Jackson/Science Source Pregnant mice that elicit an immune response have offspring with autism-like traits and an increased susceptibility to intestinal inflammation, according to a new study. The findings could help explain […]
Your browser does not support the video tag. Break Using a new line of mice that express a synaptic membrane receptor with a fluorescent tag, researchers have followed changes in the strength of the synapses in the brain over several days. The method could provide information about the altered synaptic function in people with autism […]
Stress test: high expression of the protein HOMER1A (1, green) exaggerated the loss of SHANK3 (2, pink) from synapses in stressed mice with a mutated copy of the SHANK3 gene. Stressful situations lead to social deficits in mice with a mutated copy of the autism-linked gene SHANK3, according to a new study. The elimination of […]
