FMRP

Autism research hits the road

Some scientists are thinking creatively about how to collect data in flexible environments and meet communities where they’re at.

By Giorgia Guglielmi
8 December 2023 | 0 min watch
Research image of neurons in mice.

Skewed signaling in striatum may spawn repetitive behaviors

Synaptic changes in the brain region could drive a core trait of fragile X syndrome, a new mouse study suggests.

By Holly Barker
6 September 2023 | 3 min read
Research images of protein synthesis in mice.

Neuronal deafness to stress may add to protein surplus in fragile X

A protective pathway that pauses protein synthesis is muted in a mouse model of fragile X syndrome, according to a new study.

By Holly Barker
29 August 2023 | 3 min listen
Illustration of a fragile X syndrome chromosome.
Genes Microphone

New gene-editing method flags fragile X mutation for repair

The approach prompts cultured cells to correct the genetic mutation in fragile X syndrome using their own DNA repair system, but it still needs to be tested further.

By Angie Voyles Askham
5 July 2023 | 5 min listen
an image of a neuron
Spectrum Microphone

Neurons struggle to spike without fragile X gene

FMR1 loss impairs sodium channels, hindering mouse neurons from generating the electrical signals needed to transmit information.

By Laura Dattaro
17 February 2023 | 3 min read
Research image showing neuronal activity in mice exposed to high-frequency sounds.

Missing mechanism helps solve fragile X protein mystery

Cells from people with fragile X syndrome overproduce — but don’t accumulate — proteins. New work suggests that excessive protein breakdown may account for this discrepancy, and explain some of the syndrome’s traits.

By Giorgia Guglielmi
24 January 2023 | 4 min read
Brain slice of a mouse brain showing cells carrying the fragile X mutation.
Spectrum Microphone

Fragile X neurons develop atypically in chimeric mice

After a brain transplant of reprogrammed human cells, the animals can for the first time recapitulate some neuronal changes seen in people with fragile X syndrome.

By Emma Yasinski
29 September 2022 | 4 min read
Illustration of a binocular microscope with an X Chromosome in one eyepiece and cancer cells in the other.
Spectrum Microphone

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
A brown lab mouse perches on a researcher's hand.

Largest-yet fragile X mutation in mice confirms model’s shortcomings

A 341-repeat mutation from a person with fragile X does not lead to the syndrome’s traits or function the same way in mice, highlighting a need for different animal models.

By Peter Hess
14 September 2022 | 3 min read
Spectrum Microphone

Plethora of protein-making machines in neurons may underlie fragile X

An overabundance of ribosomes drives an imbalance of proteins produced from long and short genetic transcripts in a mouse model of fragile X syndrome.

By Chloe Williams
21 July 2022 | 6 min read

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Research image of neurons in the fly’s ventral nerve cord.

New connectomes fly beyond the brain

Researchers are mapping the neurons in Drosophila’s ventral nerve cord, where the central nervous system meets the rest of the body.

By Laura Dattaro
26 July 2024 | 7 min read
Illustration of researchers talking to laypeople amidst strands of DNA.

Building an autism research registry: Q&A with Tony Charman

A purpose-built database of participants who have shared genomic and behavioral data could give clinical trials a boost, Charman says.

By Cathleen O’Grady
25 July 2024 | 8 min read

Cerebellar circuit may convert expected pain relief into real thing

The newly identified circuit taps into the brain’s opioid system to provide a top-down form of pain relief.

By Angie Voyles Askham
24 July 2024 | 6 min read