TSC2

Spectrum Microphone

Autism’s ties to the cell skeleton

Many genes related to the condition play a role in the internal scaffolding of cells, and cytoskeletal disruptions can affect neurodevelopment and behavior.

By Giorgia Guglielmi
22 June 2023 | 7 min read
Research image showing the impact of a gene mutation on a synapse.

Tweaks to autism-linked pathway tilt circuits’ signaling balance

Altered expression of TSC2 and the mTOR pathway reshape the formation of certain synapses between inhibitory and excitatory neurons in mice.

By Angie Voyles Askham
31 January 2023 | 4 min read
Two white mice socialize.

Autism genes converge on disruptions in social brain circuit

The circuit linking the prefrontal cortex and part of the thalamus is impaired in mice raised in social isolation and in mice with mutations in the FMR1 or TSC2 genes.

By Peter Hess
17 November 2022 | 4 min read
Conceptual illustration of child sleeping under blanket with multiple EEG waves overlaid on top and a window on left showing it is daytime and window on right showing nighttime.
Spectrum Microphone

Cracking autism’s sleep conundrum

Sleep problems may contribute to or derive from autism traits — or both. After decades of work, researchers are beginning to uncover the biological connections between the two conditions, revealing new paths to potential treatments.

By Chloe Williams
25 February 2022 | 8 min read

Synaptic overgrowth, hyperconnectivity may define autism subtype

Model mice of the subtype also show hyperactivity in a signaling pathway called mTOR, bolstering the idea that distinct forms of autism have different biological roots and may require different treatment approaches.

By Angie Voyles Askham
18 November 2021 | 4 min read
A concerned man holds his toddler close

Severe infection may raise odds of autism in some children

Mock viral infections impair social memory in mice with a mutation tied to autism, and autistic boys are more likely than their non-autistic peers to have had serious infections early in life.

By Giorgia Guglielmi
17 September 2021 | 5 min read
Micrograph of two developing axons, one with one copy of TSC2 gene and the other with two copies.

Disrupted cell skeletons may explain brain wiring changes in autism-linked condition

Neuronal axons ignore guidance cues after a mutation in the gene TSC2 disrupts signaling through RhoA, a protein regulated by many autism-linked genes.

By Niko McCarty
28 June 2021 | 5 min read
Spectrum Microphone

Extra proteins alter microglia and behavior in mice

The overproduction of proteins in brain cells called microglia causes social impairments, cognitive deficits and repetitive behavior in male mice, a new study has found.

By Emily Anthes
29 May 2020 | 4 min read
row of babies playing with toys that look like genome sequence

Studies of tuberous sclerosis may shed light on biology of autism

Tuberous sclerosis provides a unique opportunity to understand autism because about half of people with that single-gene condition also have autism.

By Mustafa Sahin
24 September 2019 | 5 min read

Trial results temper hopes of tumor drug for treating autism

A drug that treats tumors and epilepsy in people with tuberous sclerosis complex does not boost their intelligence or ease autism traits.

By Alla Katsnelson
29 August 2019 | 4 min read

Explore more from The Transmitter

Image of a crumpled dollar bill whose edges suggest a line graph trending downward.

Future of BRAIN Initiative funding remains unclear

As the U.S. Congress begins to discuss federal science funding for 2025, any plans to compensate for this year’s cuts to the neuroscience program face an uphill battle.

By Angie Voyles Askham
3 July 2024 | 4 min read
Illustration of a fly with its life cycle represented on its left and a technological background on its right.

Computational and systems neuroscience needs development

Embracing recent advances in developmental biology can drive a new wave of innovation.

By Ben Scott
2 July 2024 | 6 min read
Research image showing the number of unique SHANK3 transcripts in mice.

FOXP1 gene; dose effect of neurodevelopmental conditions; transcriptomics in mouse model of autism

Here is a roundup of autism-related news and research spotted around the web for the week of 1 July.

By Jill Adams
2 July 2024 | 1 min read