FMR1
Understanding fragile X syndrome
Just in time for Fragile X Awareness Month, The Transmitter rounds up notable coverage.
![A research image of X chromosomes with Fragile X syndrome](https://www.thetransmitter.org/wp-content/uploads/2024/07/1200_FragileX-1024x683.webp)
Understanding fragile X syndrome
Just in time for Fragile X Awareness Month, The Transmitter rounds up notable coverage.
Noisy brain may underlie some of autism’s sensory features
Random fluctuations in neuronal activity are more variable in a fragile X mouse model than in wildtype mice.
![Two hands hold a mouse.](https://www.thetransmitter.org/wp-content/uploads/2024/01/1200-spectrum-autism-neuroscience-transmitter-endogenous-noise-mice-neurons-1024x683.webp)
Noisy brain may underlie some of autism’s sensory features
Random fluctuations in neuronal activity are more variable in a fragile X mouse model than in wildtype 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.
![Research image of neurons in mice.](https://www.thetransmitter.org/wp-content/uploads/2023/09/1200-striatum-signaling-repetitive-behaviors-autism.png)
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.
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.
![Research images of protein synthesis in mice.](https://www.thetransmitter.org/wp-content/uploads/2023/08/1200-final-neuronal-deafness-fragile-x-protein-surplus-autism-1.png)
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.
Unknown isoform adds twist to theory of fragile X origins
Contrary to conventional wisdom, most people with fragile X syndrome express the FMR1 gene — albeit improperly.
![](https://www.thetransmitter.org/wp-content/uploads/2023/07/1200-FMR1-fragile-x-autism-1.png)
Unknown isoform adds twist to theory of fragile X origins
Contrary to conventional wisdom, most people with fragile X syndrome express the FMR1 gene — albeit improperly.
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.
![Illustration of a fragile X syndrome chromosome.](https://www.thetransmitter.org/wp-content/uploads/2023/07/1200-r-loops-autism-fragile-x.png)
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.
Astrocytes fuel erratic firing in fragile X neurons
A shift in astrocyte secretions may explain the atypical firing patterns of neurons derived from people with fragile X syndrome.
![Research image of neurons and astrocytes.](https://www.thetransmitter.org/wp-content/uploads/2023/05/844-astrocytes-final.jpg)
Astrocytes fuel erratic firing in fragile X neurons
A shift in astrocyte secretions may explain the atypical firing patterns of neurons derived from people with fragile X syndrome.
Company on brink takes psilocybin to trial for fragile X syndrome
The phase 2A trial has its detractors despite positive animal results and is being sponsored by a company that is struggling financially.
![An illustration of a scientist on a stage with a giant pill bottle that has been chopped in half.](https://www.thetransmitter.org/wp-content/uploads/2023/04/844-nova-mentis-autism.jpg)
Company on brink takes psilocybin to trial for fragile X syndrome
The phase 2A trial has its detractors despite positive animal results and is being sponsored by a company that is struggling financially.
Going on Trial: Orphan drugs; CBD; bumetanide
This month’s newsletter takes a close look at the orphan drug program in the United States, several cannabis-based therapies and a secondary analysis of bumetanide, among other new developments in autism-related drug trials.
![Illustration of a sheet of red and white pills, with the red pills arranged in the form of a question mark.](https://www.thetransmitter.org/wp-content/uploads/2023/01/844-going-on-trial-autism-drugs-02.jpg)
Going on Trial: Orphan drugs; CBD; bumetanide
This month’s newsletter takes a close look at the orphan drug program in the United States, several cannabis-based therapies and a secondary analysis of bumetanide, among other new developments in autism-related drug trials.
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.
![an image of a neuron](https://www.thetransmitter.org/wp-content/uploads/2023/02/844-final-1.png)
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.
Explore more from The Transmitter
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.
![Research image of neurons in the fly’s ventral nerve cord.](https://www.thetransmitter.org/wp-content/uploads/2024/07/lede-motormodules-1200-1024x692.webp)
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.
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.
![Illustration of researchers talking to laypeople amidst strands of DNA.](https://www.thetransmitter.org/wp-content/uploads/2024/07/1200_Charman-1024x687.webp)
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.
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.
![](https://www.thetransmitter.org/wp-content/uploads/2024/07/paincircuit-1200-1024x692.webp)
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.