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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 2021
Heatmap plot showing how each genetic variant plus autism group differed.

Copy number variations linked to autism have diverse but overlapping effects

by  /  1 February 2021

People with mutations in distant chromosomal regions often share a range of autism traits, even if they do not meet the diagnostic threshold for autism.

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January 2021

Method may improve safety of gene therapies targeting the brain

by  /  28 January 2021

A new approach for delivering gene therapy to the brain reduces nerve damage in primates and could help make gene therapies for conditions related to autism safer.

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Mouse brain slices shown in red

Vasopressin relieves social deficits in an autism mouse model

by  /  25 January 2021

Mice missing a copy of MAGEL2 have trouble discerning between a familiar mouse and an unfamiliar one; treating them with the social hormone vasopressin reverses this deficit.

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Molecular model of histone protein which wraps up DNA strands.

New condition hints at structural protein’s role in autism

by  /  22 January 2021

Mutations in genes that encode a histone, which gives structure to chromosomes, can lead to developmental delay and congenital anomalies.

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DNMT3A protein attaches a methyl group tag onto the DNA base cytosine.

Autism-related conditions converge on same loss of DNA tags

by  /  20 January 2021

Mutations in the autism-linked gene DNMT3A lead to the behaviors and gene-expression changes seen in different neurodevelopmental conditions.

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Illustration of firing neurons.

Autism protein may shape neuronal firing patterns

by  /  14 January 2021

Cells with excess UBE3A, an autism-linked protein, have atypical firing properties that can be corrected by limiting the protein’s levels, according to new research.

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New gene therapy methods deliver promise

by  /  14 January 2021

Two unpublished studies detail improved techniques for delivering gene therapies to the brain.

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Mouse with her pup

Malfunctioning neurons mute sound processing in mouse model of Rett syndrome

by  /  14 January 2021

Female mice missing a copy of the autism-linked gene MECP2 in a specific set of inhibitory neurons have a hard time heeding pups’ calls and herding litters.

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Two top autism genes may have a mechanism in common

by  /  13 January 2021

Mutations in two genes linked to autism and intellectual disability boost the immune response and cause synapse dysfunction.

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neurons in mice

Sensory perception, cell signals disrupted in people and mice missing autism gene

by  /  13 January 2021

People and mice with only one working copy of the autism gene SYNGAP1 may have trouble processing sights and sounds.

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