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 […]
Old growth: A new study in Nature identifies gene variants that accumulate in sperm as men age and finds that those linked to developmental conditions in children are among the most common. Researchers pinpoint 40 genes—31 of which had not previously been identified—that were under significant positive selection, demonstrating that genes undergoing clonal selection in […]
Early overgrowth: In their first few weeks of development, organoids with two intact copies of CHD8 (top) developed excitatory neurons more slowly than organoids missing a copy of the gene (bottom). Editor’s Note This article was originally published 11 January 2021, based on preliminary findings presented at the Society for Neuroscience annual meeting. The results […]
People with mutations in the PAX5 gene have a distinct neurodevelopmental syndrome characterized by a range of traits, including developmental delay, intellectual disability, seizures and autism, according to a new study of 16 children and young adults. Until now, genetic testing did not give people with PAX5 mutations clear answers about their development, says lead […]
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 […]
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 […]
A new harmless virus can deliver genes to brain cells without infecting other tissues, according to early tests in mice and monkeys. The virus could minimize the risk of side effects from gene therapies under development for autism-related conditions, such as Angelman syndrome, Rett syndrome and fragile X syndrome. Gene therapy typically involves replacing a […]
In a fix: mice lacking the autism-related gene POGZ have an altered expression of ADNP, which is also associated with autism. The POGZ gene associated with autism, according to a new mouse study, facilitates the accessibility and expression of genes involved in wiring the brain in utero. People with a mutation in POGZ are more […]
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 […]
Lack of isolation: Mutations in the MYT1L gene deactivate a transcription factor that is important for myelin-forming cells that coat nerve fibers. Biophoto Associates / Science Source A variety of traits, including developmental delay and intellectual disability, characterize people with mutations in the autism-related MYT1L gene, according to a new study. The gene encodes a […]
Big boost: A potential new gene therapy for Angelman syndrome results in expression of UBE3A throughout the mouse brain within days of a single injection. Courtesy Matt Judson / UNC Injection of a potential new gene therapy for Angelman syndrome prevents many of the key features of neurological development, according to early tests in mice. […]
