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

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How to teach this paper: ‘Behavioral time scale synaptic plasticity underlies CA1 place fields,’ by Bittner and Milstein et al. (2017)

Katie Bittner, Aaron Milstein and their colleagues found that cellular learning can happen over longer timescales than Hebb’s rule predicts. How long should we wait to teach students about this phenomenon?

By Ashley Juavinett
24 June 2024 | 11 min read
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Climbing to new heights: Q&A with Kaspar Podgorski

The optical physiologist tracks neural computations inside the lab and scales sheer rock faces outside—even after a life-changing fall.

By Elissa Welle
21 June 2024 | 8 min read
Research illustration groups genes by their effects on brain cell types.

Giant analysis reveals how autism-linked genes affect brain cell types

Genes that predispose people to autism account for a large portion of the neuronal and glial cell changes seen in those with the condition.

By Charles Q. Choi
20 June 2024 | 5 min read