The list of high-confidence autism-linked genes has expanded to 253, according to a new preprint, which also offers new insights into how the genes relate to other conditions and the biological pathways they share. Genes harboring rare, de novo variants linked to autism, or to neurodevelopmental conditions more broadly, differ in their biological roles and […]
Across multiple mouse models carrying different autism-linked variants, gene activity in the prefrontal cortex fell into two opposing patterns, a large transcriptomic study shows. In one, genes involved in communication between neurons were less active than usual, whereas genes involved in regulating DNA and processing RNA were more active. The second group showed the reverse […]
The proteins encoded by 100 genes involved in autism form an interconnected network consisting of multiple protein complexes that serve different cellular functions, according to a study published today in Science. Autism-associated variants may cause this network to rewire, the study also found. Even though autism is a genetically heterogeneous condition, “when you look at […]
The stringent statistical threshold used in genome-wide association studies (GWAS) hides low-frequency variants linked to autism and other conditions, a new preprint suggests. Lowering the threshold could reveal some of those variants, according to the study. “It’s really innovative,” says Carrie Bearden, professor of psychiatry and biobehavioral sciences at the University of California, Los Angeles, […]
Different strokes: Variants of the SCN2A gene have a range of impacts on the Nav1.2 sodium channel and appear to relate to the different neurodevelopmental conditions that result, according to a new preprint. Notably, those variants that give rise to non-syndromic autism cause a loss of channel function. When these loss-of-function variants are co-expressed with […]
Different genetic variants associated with autism converge on common biological processes that shape the developing brain, according to a large study of organoids derived from autistic people’s cells. Individual variants initially alter neurodevelopment in distinct ways, but over time they all disrupt neuron maturation and other key processes, the study shows. Previous work, including postmortem […]
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 […]
Pulling threads: A new study describes how genetic background can influence neurodevelopmental phenotypes linked to a particular gene variant. To wit, when a parent and child both carry the 16p12.1 deletion, they often experience different clinical presentations. The researchers evaluated 17 classes of secondary variants and identified those that influenced risk for specific traits, such […]
Long-read sequencing reveals novel autism-linked variants that short-read sequencing misses, according to two preprints posted on medRxiv in July. “These are two very nice papers from top labs. They both make compelling cases for long-read sequencing,” says Michael Gandal, associate professor of psychiatry, genetics and pediatrics at the University of Pennsylvania Perelman School of Medicine, […]
A broad swath of neuropsychiatric conditions, including autism, depression and schizophrenia, share genetic underpinnings. But individual variants can have strikingly different effects on clinical diagnoses: A variant that increases the likelihood of one condition may reduce that of another, according to two new preprints. “When you delete and duplicate genes, you get very different, often […]
Illustration by Laurenne Boglio Social media in the autism space this week served up a helpful cheat sheet of standout research tweets to catch up on — plus an easier way to consume preprints. “Mixtures matter,” tweeted Giuseppe Testa, professor of molecular biology at Università Statale in Milan, Italy, about the effects of endocrine disruption […]
research roundup Zebrafish startle in response to a simulated predator approach and habitualize to repeated trials; fish missing the FMR1 gene — a model of fragile X syndrome — show muted behavioral habituation and neuronal changes in the visual and motor systems. Nature Communications Autistic women and other-gender adults have more service needs and experience […]
