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Spectrum: Autism Research News

Tag: 16p11.2

May 2022
Ultrasound in black and white shows a pattern.

Heart anomalies abound in mouse models of autism

by  /  23 May 2022

Of nine genetic models examined in a new study, all had some incidence of cardiac abnormalities. But the problems varied widely depending on the affected genes.

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Autism and the complete human genome: Q&A with Evan Eichler

by  /  10 May 2022

Scientists have at last filled in the missing gaps — an advance likely to inform every aspect of autism genetics research, Eichler says.

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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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September 2021
researcher holds zebrafinch

Fish, frogs, flies and other fauna in scientific firsts

by  /  8 September 2021

Over the past century, scientists have used a variety of animal models to advance their understanding of the developing brain and autism.

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neurons in organoids

Protein inhibitor normalizes neuronal migration in organoid model of autism

by  /  1 September 2021

Inhibiting a protein that helps cells move or change shape prevents atypical neuronal migration in 3D clusters of brain cells carrying autism-linked genetic variants.

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August 2021

Drugs boost serotonin, socialization in multiple autism mouse models

by  /  6 August 2021

The finding that MDMA and an experimental serotonin agonist increase sociability across six different model mice suggests that disparate autism-linked mutations converge on the same underlying pathways.

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May 2021
Microglia activity seen in red, green and blue.

Autism mutation may cause big brain via ‘don’t eat me’ signals

by  /  17 May 2021

An autism-linked mutation could make the brain grow unusually large by prompting cells to express a chemical signal better known for its connection to cancer.

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brainstem of rats in red, green and blue highlight higher levels of GABA.

GABA agonist rescues auditory hypersensitivity in rats missing autism-linked gene CNTNAP2

by  /  3 May 2021

The investigational drug arbaclofen may right an imbalance between inhibitory and excitatory signaling in the animals’ brains.

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April 2021
Mouse brains carrying CUL3 gene mutation reveal unusually thin cortical tissue.

Neuron ‘skeleton’ may explain impact of autism-linked gene mutation

by  /  16 April 2021

Mutations in CUL3, a gene strongly linked to autism, may cause differences in brain structure by disrupting cytoskeleton proteins, according to a new study.

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Micrograph comparing locus coeruleus of 16p11.2 mutant mice and control mice show less active noradrenergic neurons in mutant mice.

Circuit flaw underlies motor learning issues in autism mouse model

by  /  12 April 2021

Mice missing a copy of chromosomal region 16p11.2 are slow to learn motor tasks and have dysfunction in a brain circuit associated with stress and movement, according to a new study. Normalizing this circuit’s activity corrects the learning deficit.

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