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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
Computer screen reflection in spectacles of DNA profile, close up of face

New ranking system flags clinically relevant ‘autism genes’

by  /  5 May 2021

A novel method to evaluate the strength of the evidence linking autism to specific genes could reveal which ones are most useful to screen for.

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Chart compiling the deletions and duplications linked to various neurodevelopmental traits.

Massive analysis scores genes’ sensitivity to mutations

by  /  5 May 2021

Researchers have rated more than 17,000 genes, including many linked to autism and other neuropsychiatric conditions, according to their sensitivity to deletions and duplications.

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Mouse gut cells in blue, purple and pink

Loss of top autism-linked gene from gut alters behavior in mice

by  /  4 May 2021

Deleting CHD8 from the intestines induces gastrointestinal and behavioral changes in mice that resemble traits in people with mutations in the gene.

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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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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
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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