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 […]
Tickle test: Sensory learning is altered in a mouse model of fragile X syndrome, according to a new preprint. The investigators recorded neuronal activity in response to repeated whisker stimulation in the mice and observed hampered long-term potentiation—synaptic changes that underlie learning—in pyramidal neurons. The researchers speculate that these findings may reflect “a significant deterioration […]
Autism-related behaviors and susceptibility to seizures both arise from hyperactivity in a key region of a sensory-information-processing circuit in the brain, a new study finds. The results may help explain the frequent co-occurrence of autism and epilepsy and point to a new therapeutic target. According to current estimates, about 12 percent of people with autism […]
Butterfly effect: Disabling the ATRX gene in forebrain excitatory neurons during embryogenesis alters brain size, structure and connectivity in adult mice, according to a new preprint. Previous work has shown that this intervention induces autism-like behaviors and thus appears to model ATR-X syndrome in people. ATRX-deficient mice of both sexes were smaller than controls, but […]
Scratch the surface: Mice carrying a particular SHANK3 variant display heightened scratching behavior in response to a skin insult, according to a new study that attempted to model the altered sensitivity to touch observed in many autistic people. Electrophysiological analysis of sensory neurons revealed a decrease in mechanoreceptor responsiveness in the SHANK3 mice compared with […]
Visual cues: Sensory neurons in the retina display altered structure and function in a mouse model of fragile X syndrome, according to a new study. Retinal ganglion cells—homologous to primate ganglion cells—received more inhibitory input and were less responsive to light in mice lacking the gene FMR1 compared with the same cells in wildtype mice. […]
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 […]
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 […]
Stacked effects: A gene mutation and immune stimulation together can render mice less social. Photography by Richard Drury Activating the immune system blunts social behaviors in mice missing a copy of the autism-linked gene SHANK3, according to a new study. But blocking TRPV4, a gene that encodes an ion channel involved in inflammatory responses, can […]
Illustration by Laurène Boglio Hello and welcome to the community newsletter! I am your host, Chelsey B. Coombs, the engagement editor of Spectrum. We start this week with a paper on the strengths of autistic researchers by Aimee Grant, Senior Research Officer in Public Health at Swansea University, and Helen Kara, Honorary Senior Research Fellow […]
Exhale: In mice with a mutated copy of the TCF4 gene (right), nerve cells (pink) are in short supply compared to controls (left). Courtesy Daniel Mulkey The breathing difficulties in children with Pitt-Hopkins syndrome, a rare form of autism, stem from dysfunctional circuitry and a malignant sodium channel in the brain stem, according to a […]
Imbalanced Characteristics: Animals with mutated ADNP have motor difficulties that are more pronounced in female mice. Photography by Rick Dahms Mice with a mutation in an autism-related gene called ADNP show gender-specific changes in gene expression, behavior, and other traits, a new study shows. The mice can mimic some of the traits seen in humans […]
