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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.

November 2021
Three mice sniffing each other.

Reversing mutations in top autism-linked gene makes adult mice more social

by  /  10 November 2021

Treatments that counteract the effects of an SCN2A mutation in mice increase the animals’ sociability in adulthood, according to a new unpublished study.

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Mouse neurons in red and pink on black.

Mouse model reveals root of breathing issues in rare form of autism

by  /  5 November 2021

Dysfunctional circuits and a rogue sodium channel in the brainstem may explain the disordered breathing pattern seen in children with Pitt-Hopkins syndrome, a form of autism.

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Photo: A scientist wearing a green shirt and white gloves holds two black laboratory mice. The viewer is looking over the scientist's shoulder at their cupped hands holding the mice.

Sex bias emerges in new mouse model with autism-linked mutation

by  /  3 November 2021

Compared with a previous mouse strain, a new model better reflects some of the difficulties that people with a rare autism-related syndrome experience, and may help identify biomarkers of the syndrome.

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October 2021
Multicolored diagram comparing genetic burdens amongst non-autistic people, autistic people who carry specific rare mutations and autistic people who lack such mutations.

Rare mutations prevalent among autistic people

by  /  29 October 2021

A quarter of autistic people carry rare genetic variations linked to autism and other neurodevelopmental conditions, but these mutations alone may not be enough to lead to autism.

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Autism-linked gene SYNGAP1 molds synaptic plasticity, learning

by  /  21 October 2021

Even partial loss of the gene impairs the mouse brain’s ability to respond to sensory experiences, which may explain why people with SYNGAP1 mutations tend to have learning difficulties and a high pain tolerance.

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Illustration: a 3D DNA molecule sits on a gridded background, with yellow paper rays arrayed around it.

Subset of autism cases linked to mutations in noncoding genome

by  /  20 October 2021

Autism involves mutations in noncoding portions of the genome in at least 3 percent of people with the condition. The mutations occur in regions that help regulate known autism-linked genes.

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Simple flat color DNA helix in two tones of blue.

Autism-linked genetic variants increase, decrease intelligence

by  /  19 October 2021

Common and rare variants in or near autism-associated genes can have opposite effects on cognition.

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white lab mouse grooming.

Cancer drug alters autism-like traits in mice

by  /  5 October 2021

A drug that helps promote gene expression reduces repetitive behaviors and improves memory and sociability in a mouse model of autism.

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Two colorful mouse neurons seen side by side on black, one has a mutation.

Precocious neurons may stunt brain growth in rare form of autism

by  /  5 October 2021

The first animal model of MYT1L syndrome suggests that fast-maturing neurons lead to the unusually small brains, social deficits and other traits seen in people with the condition.

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September 2021
Cells in the cerebral cortex.

Atlas maps gene activity, accessibility in developing brain

by  /  30 September 2021

A new resource profiles gene expression and the accessibility of DNA in single cells across the developing human cerebral cortex and may help scientists decipher the effects of noncoding mutations linked to autism.

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