Tuberous sclerosis

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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
Lab images of cilia.
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Autism and the cell’s antennae

Many autism-linked genes are somehow tied to cilia, the tiny hair-like sensors that stud a cell’s surface. But the question remains whether, and how, cilia differences contribute to the condition.

By Giorgia Guglielmi
4 January 2023 | 6 min read
A composite of many scans of mice illustrating the effectiveness of an experimental drug.

Two-drug combo blunts autism-linked pathway in brain

One drug blocks mTOR signaling, and the other stops the blocker from acting anywhere in the body but the brain, lowering the potential for side effects.

By Peter Hess
14 October 2022 | 3 min read
Illustration of a binocular microscope with an X Chromosome in one eyepiece and cancer cells in the other.
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The cloudy connection between fragile X and cancer

People with the autism-linked syndrome lack a protein implicated in several cancers, but it’s unclear whether — or how — they are protected from malignancies.

By Giorgia Guglielmi
28 September 2022 | 8 min read

Autism model mice develop typical social and motor behaviors after drug treatment

The drug suppresses an overactive signaling pathway implicated in tuberous sclerosis complex.

By Laura Dattaro
9 March 2022 | 5 min read
Dr. Shafali Jeste portrait with a vibrant fuschia background.
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Shafali Jeste: Early autism meets its match

Shafali Jeste has spent the bulk of her scientific career searching for biological markers of autism. Her goal: to improve lives through early diagnosis and speedy testing of therapies.

By Emily Laber-Warren
30 November 2021 | 11 min read
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Deep-learning model may accurately predict autism diagnosis

The algorithm estimates a child’s likelihood of having autism from patterns of co-occurring conditions in electronic health records, outperforming a widely used screening test.

By Anna Goshua
28 October 2021 | 5 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
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Molecular overlap links tuberous sclerosis, fragile X

Brain cells from the cerebellums of mice that model tuberous sclerosis show dampened levels of proteins controlled by FMRP, the protein missing in fragile X syndrome.

By Rachel Zamzow
16 August 2021 | 5 min read

Explore more from The Transmitter

10 standards for brain electrode-array recordings enhance reproducibility

Electrophysiology findings can vary widely from lab to lab, even among those using identical protocols. New guidelines set forth in a preprint should help.

By Elissa Welle
12 July 2024 | 5 min read
A hand holds a stack of speech bubbles.

Leveraging the power of community to strengthen clinical trials for rare genetic syndromes

Families can become not only participants but champions of these research efforts.

By Shafali Spurling Jeste
11 July 2024 | 7 min read

Accounting for a mosaic of sex differences: Q&A with Nicola Grissom

Breaking the binary view of sex traits can enable researchers to represent the broader complexity of behavior and cognition.

By Olivia Gieger
10 July 2024 | 7 min read