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Spectrum: Autism Research News

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Genes

Rare or common, inherited or spontaneous, mutations form the core of autism risk.

February 2022

Immune gene tied to social behavior in autism mouse model

by  /  3 February 2022

Activating the immune system blunts social behavior in mice missing a copy of the autism-linked gene SHANK3, according to a new study. Blocking TRPV4, which encodes an ion channel involved in inflammatory responses, can reverse this effect.

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Three autism-linked genes converge on tweaks to cells’ timing

by  /  2 February 2022

Mutations in all three accelerate the maturation of inhibitory neurons, which could upset the brain’s balance of excitation and inhibition early in development.

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Enrichment lessens Angelman-like traits in male mice

by  /  2 February 2022

Model animals don’t develop the usual behavioral and motor problems when reared in an enclosure containing exercise wheels, toys and treats.

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January 2022
Overhead view of crowd of people walking in Copenhagen city square.

Population study downgrades some copy number variants’ impact on autism

by  /  28 January 2022

Some copy number variants may boost a person’s chances of having autism, but to a lesser extent than previously thought.

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grid of 12 views of mouse neurons.

Loss of autism-linked gene alters synapse development in mice

by  /  25 January 2022

Mice missing a copy of the gene ASH1L have excess synapses and autism-like behavioral differences, some of which are reversed by boosting an ASH1L-regulated gene.

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Normal mouse brain (left) vs brain in mouse lacking POGZ gene (right)

Top autism-linked gene boosts DNA accessibility during development

by  /  10 January 2022

Loss of the POGZ gene in mice makes certain genes inaccessible and prevents their expression.

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Cerebral cortex transcript

Alternate RNA versions of genes may shape autism

by  /  7 January 2022

Autism may involve different levels of RNA isoforms encoded by genes in the brain, which express many more proteins than previously thought.

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Series of micrographs of synapses in stressed mice with mutated SHANK3 gene showing high expression of HOMER1A protein and loss of SHANK3.

Autism-linked gene primes stress vulnerability in mice

by  /  3 January 2022

In mice with a mutated copy of SHANK3, stress induces social deficits and alters gene expression in certain excitatory neurons. But eliminating a stress-related protein that regulates SHANK3 restores typical social functioning in the animals.

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December 2021

Trends in autism research 2021

 /  23 December 2021

As 2021 comes to a close, Spectrum recaps some of the biggest trends in autism science this year: studies of sex differences, noncoding regions of the genome and points of convergence, as well as efforts to improve screening and participatory research.

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Cluster of traits tied to rare mutations in autism-linked gene

by  /  20 December 2021

Developmental delay, intellectual disability and behavioral issues are common among people who have mutations in MYT1L, a gene with strong ties to autism.

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