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Genes

Rare or common, inherited or spontaneous, mutations form the core of autism risk.

January 2021
Two mice in a rotarod machine
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Mouse study sounds note of caution for Rett syndrome therapies

by  /  13 January 2021

Treatments for Rett syndrome that aim to boost levels of the protein MECP2 may not help everyone with the condition.

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Four white mice on a rotarod, blue background.
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Motor skills, brain volume affected in mouse model of DDX3X syndrome

by  /  13 January 2021

Mice missing one copy of the autism-linked gene DDX3X have smaller brains and worse motor skills than mice with both copies of the gene, according to a new unpublished study.

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Neurons in cerebella of mice with fewer branches and spines.
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Cerebellum alterations crop up in mice missing autism gene

by  /  12 January 2021

Deleting the autism-linked gene CNTNAP2 from mice leads to distinct cellular and electrical changes in the cerebellum, according to two unpublished studies presented virtually today at the 2021 Society for Neuroscience Global Connectome.

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dopamine neurons in mice show up green in an area of the brain associated with social reward.
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Dopamine neurons may dampen social behavior in mouse model of autism

by  /  12 January 2021

Mice missing a copy of the autism-linked gene PTEN show a reduced preference for social interaction, possibly due to atypically large, overconnected dopamine neurons. Easing the overconnection may alleviate this trait.

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Neurons show structural changes, seen in black and white.
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Loss of a top autism gene may alter neuron structure

by  /  12 January 2021

Mutations in the autism-linked gene ASH1L change how neurons grow and develop.

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A mosaic made of different colors of maize (corn) kernels depicting DNA.
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Two studies highlight role of ‘mosaic’ mutations in autism

by  /  11 January 2021

Mutations seen in only some of the body’s cells often affect gene activity in the brains of people with autism, and can involve large segments of DNA, according to two new studies.

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grid of clocks showing different times
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Missing autism gene may affect time perception in mice

by  /  11 January 2021

Mice missing a copy of the autism-linked gene NRXN1 appear to perceive some time intervals as shorter than control mice do, according to a new study.

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organoids in early stages of development.
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Organoids show how mutations in top autism gene may lead to brain overgrowth in people

by  /  11 January 2021

The loss of CHD8, a top autism gene, speeds up the production of certain neurons and leads to overgrowth in spheres of cultured brain cells.

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Colorful CT scan of a zebrafish head.
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Zebrafish strains reveal broad effects of autism genes

by  /  11 January 2021

Mutations in autism-linked genes lead to a variety of changes in brain activity, sensory perception and sleep-wake cycles in zebrafish.

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Illustration shows the hands of researchers selecting parts of a DNA helix for secure shredding.
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‘Sanitizing’ functional genomics data may prevent privacy breaches

by  /  8 January 2021

A new technique for masking portions of raw genomic data increases shareability without sacrificing privacy.

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