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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.

January 2023
Research image showing neuronal activity in mice exposed to high-frequency sounds.

Missing mechanism helps solve fragile X protein mystery

by  /  24 January 2023

Cells from people with fragile X syndrome overproduce — but don’t accumulate — proteins. New work suggests that excessive protein breakdown may account for this discrepancy, and explain some of the syndrome’s traits.

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Cultured kidney cell with spike-like structures protruding from it.

Mutations in autism-linked gene cause membrane mischief

by  /  19 January 2023

Inactivating TAOK1 prompts tentacle-like protrusions to form all over a neuron’s surface, revealing the gene’s role in molding the membrane.

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Graham Diering smiles in a portrait in his yard.

Asleep in the Mouse House with Graham Diering

by  /  12 January 2023

Memories from Diering’s life trace the rising star’s scientific path from raising lizards as a child and later exploring home brewing to heading a lab that investigates memory, sleep disturbances and early development in animals with autism-linked mutations.

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Lab images of cilia.

Autism and the cell’s antennae

by  /  4 January 2023

Many autism-linked genes are somehow tied to cilia, the tiny hair-like sensors that stud a cell’s surface. But the question remains whether, and how, cilia differences contribute to the condition.

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Image of neurons during a seizure.

Calming neurons to quell seizures: Q&A with Gabriele Lignani and Dimitri Kullmann

by  /  3 January 2023

A new gene therapy approach for epilepsy tamps down neural activity on demand.

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December 2022
Gavin Rumbaugh stands on a beach with his family: his wife, dog and child.

Beyond the bench: Finding balance with Gavin Rumbaugh

by  /  15 December 2022

Rumbaugh, who studies how the autism-linked gene SYNGAP1 shapes brain development, describes how he has embraced coastal living and which aspects of his career he wouldn’t do over.

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Illustration of a pregnant woman seated next to a large diagram of the brain featuring chromosomes, bacteria and other microbes.

The link between maternal infection and autism, explained

by  /  13 December 2022

Having an infection during pregnancy is tied to a small increase in the chances of having an autistic child, but the connection may not be causal.

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lllustration of the junction between two nerve cells.

Multi-omics study captures CNTNAP2’s far-ranging effects

by  /  8 December 2022

The in-depth approach shows mutations in the autism-linked gene disrupt neuronal growth and communication, as well as mitochondrial gene expression.

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X chromosome against a dark background.

Common and rare autism-linked variants share functional effects

by  /  1 December 2022

Within the 16p region of the genome, the two types of variants similarly decrease neuronal gene expression — an effect that may reflect their spatial relationship.

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November 2022
Image displaying impeded interneuron development.

‘Assembloids’ lay bare autism-linked genes that hamper neuron development

by  /  30 November 2022

The model enables the study of autism-linked genes at the earliest stages of neural development.

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