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Spectrum: Autism Research News

Tag: 16p11.2

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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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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November 2020
Brain diagrams showing connectivity within different regions.

Gene mutations point to overlaps in brain connectivity for autism, schizophrenia

by  /  30 November 2020

People who have large mutations associated with autism and schizophrenia share atypical patterns of brain connectivity, according to a new study, especially between areas that process sensory information.

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August 2020
Young child on her bed looking at a book.

Studies unravel diversity of traits tied to chromosome 16 mutations

by  /  3 August 2020

Two new analyses help to explain why mutations to the chromosomal region 16p11.2 can lead to autism, intellectual disability or language difficulties.

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