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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.

May 2021
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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young woman sitting on steps alone, looking anxious.

Anxiety, self-harm elevated in people with DDX3X syndrome

by  /  3 May 2021

Girls and women with mutations in the autism-linked gene DDX3X may be particularly vulnerable to anxiety and self-harm.

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April 2021
Two views of mouse brain slices colorized in green and red.

Jump-starting growth signaling reverses microcephaly in autism mouse model

by  /  29 April 2021

A genetic therapy and an existing drug both restore typical brain size in mice missing DYRK1A, a top autism candidate gene, in the cerebral cortex, a new study shows. The animals typically have smaller brains than controls.

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Colorful RNA in mouse brain slice

Tissue-swelling method divulges RNA locations, sequences in cells

by  /  28 April 2021

A technique that expands tissue before spotting and sequencing RNA — the molecular messenger for DNA — enables researchers to see where particular genes are expressed in cells.

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Loss of CHD8 from cerebellum disrupts movements, not social behaviors

by  /  26 April 2021

Deleting the autism-linked gene CHD8 from specific cells in the cerebellum, a brain region important for movement, leads to motor deficits but does not alter social behaviors in mice.

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single celled zygote seen as a colorful cluster of dots, next to a four cell embryo, visualized in the same way.

Intact-cell sequencing lays bare new view of genome structure

by  /  22 April 2021

The technique enables researchers to sequence the DNA of an intact cell, providing a unique view of the genome’s organization inside the nucleus.

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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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A group of six images of fruit fly brains show networks in green and pink.

Poor sleep could be core feature of autism, related conditions

by  /  15 April 2021

Fruit flies with low expression of a gene linked to neurodevelopment have disrupted sleep, poor memory and altered social behavior.

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Macaques on dead trees on Cayo Santiago.

Friends of friends: How monkey island’s residents bonded after Hurricane Maria

by  /  13 April 2021

On 20 September 2017, Hurricane Maria passed over Puerto Rico’s Cayo Santiago Island, home to more than 1,500 non-native rhesus macaques. After the storm, the monkeys formed new, unexpected relationships in ways that could offer clues about autism.

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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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