PTEN

Recent articles

Two paper arrows intersect to form a double helix.

Genetic background steers PTEN syndrome traits

People with the syndrome, caused by variants in the gene PTEN, often have autism or cancer, or both, but it depends on the genetic diversity encoded in the components of distinct cell signaling pathways, according to a new study.

By Holly Barker
19 June 2025 | 5 min listen
Research image of rodent brains.

PTEN problems underscore autism connection to excess brain fluid

Damaging variants in the autism-linked gene cause congenital hydrocephalus—a buildup of cerebrospinal fluid in the brain—by turbocharging a downstream signaling pathway that promotes the growth of cells, according to a new study.

By Holly Barker
3 April 2025 | 4 min read
Illustration of mitochondria as a kind of Stonehenge, with the shapes standing upright, casting shadows, against a blue sky.

Mitochondria mediate effects of PTEN mutations

Whole-genome sequencing data — which include information about mitochondrial DNA — offer clues to why mutations in the same gene can lead to autism or cancer.

By Katie Moisse
26 June 2023 | 4 min read
Composite research image of organoids at several stages of development.

Genetic background sways effects of autism-linked mutation

Experiments offer clues to why certain mutations are associated with autism in some people and not others.

By Charles Q. Choi
18 May 2023 | 4 min read

Fishing for protein partners nets clues to autism

Connections between 13 autism-linked proteins and their binding partners in excitatory neurons implicate a new molecular pathway.

By Holly Barker
6 February 2023 | 5 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
A woman in a lab coat types at a computer.

New diagnostic code for PTEN syndrome may spur research

The code may help scientists identify people with the autism-linked condition and recruit them into clinical trials.

By Nicholette Zeliadt
3 October 2022 | 4 min read
Illustration of a binocular microscope with an X Chromosome in one eyepiece and cancer cells in the other.

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
Stylized illustration combines flat color and 3D forms make up a mitochondria with human heads inside it.

Meet the ‘mitomaniacs’ who say mitochondria matter in autism

Clues that problems with mitochondria contribute to autism have been accumulating for decades. In the past five years, a mutant mouse and a flurry of findings have energized the field.

By Laura Dattaro
22 November 2021 | 18 min read
Illustration of hybrid objects: part light bulb, part lab vial, some in blue and some in red to signify null and replicated results

Null and Noteworthy: Null rejection, repetitive behaviors, unsuccessful treatments

In this edition of Null and Noteworthy, tests of intranasal oxytocin and an Angelman syndrome treatment fail to see results.

By Laura Dattaro
23 September 2021 | 5 min read

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