Mosaicism
Cortical interneurons derive differently in human brains
Excitatory neurons and some inhibitory neurons in the adult human cortex share parents, challenging the longstanding idea that the two cell types have different origins.
![Illustration of two neurons with a shared origin point.](https://www.thetransmitter.org/wp-content/uploads/2023/12/neurons-origins-1200-1024x692.webp)
Cortical interneurons derive differently in human brains
Excitatory neurons and some inhibitory neurons in the adult human cortex share parents, challenging the longstanding idea that the two cell types have different origins.
Turner syndrome tied to autism
Most people with the X-linked syndrome have autism traits, and about one-quarter meet diagnostic criteria for the condition.
![Two teenage girls sit next to each other on a couch, one looking at a cell phone while the other uses a tablet computer.](https://www.thetransmitter.org/wp-content/uploads/2023/01/202301-Mental-health-female-autism-844.jpg)
Turner syndrome tied to autism
Most people with the X-linked syndrome have autism traits, and about one-quarter meet diagnostic criteria for the condition.
Mutations linked to autism may be detectable in men’s sperm
An advanced DNA-sequencing technique has identified gene-damaging mutations, some with ties to autism, in about 1 in 15 men.
![circuit board style lines in black and white suggest sperm approaching an egg.](https://www.thetransmitter.org/wp-content/uploads/2021/09/20210916-MosaicSperm844.jpg)
Mutations linked to autism may be detectable in men’s sperm
An advanced DNA-sequencing technique has identified gene-damaging mutations, some with ties to autism, in about 1 in 15 men.
Patchwork mutations present a new frontier for autism research
Mosaic mutations, which affect only some of the body’s cells, play a small but meaningful role in autism. Though they are difficult to study, researchers are working to master their complexity.
![Brain composed of legos with various legos scattered around](https://www.thetransmitter.org/wp-content/uploads/2021/07/20210309-MOSAICISM-lead844.jpg)
Patchwork mutations present a new frontier for autism research
Mosaic mutations, which affect only some of the body’s cells, play a small but meaningful role in autism. Though they are difficult to study, researchers are working to master their complexity.
Alternative gene-therapy approaches take aim at Rett syndrome
Methods that selectively increase levels of the Rett protein make for safer and more effective treatment strategies, some researchers say.
![lab technician pipetting in dramatic light](https://www.thetransmitter.org/wp-content/uploads/2021/06/LabScenewide-844.jpg)
Alternative gene-therapy approaches take aim at Rett syndrome
Methods that selectively increase levels of the Rett protein make for safer and more effective treatment strategies, some researchers say.
Molecular switch marks mosaic mutations in mice
A new tool enables researchers to create mosaic mutations in only some cells and then accurately identify which cells are affected.
![cells in a mouse brain show the mutations in green.](https://www.thetransmitter.org/wp-content/uploads/2021/02/20210203-Mosaicism-844.jpg)
Molecular switch marks mosaic mutations in mice
A new tool enables researchers to create mosaic mutations in only some cells and then accurately identify which cells are affected.
Two studies highlight role of ‘mosaic’ mutations in autism
Mutations seen in only some of the body's cells often affect gene activity in the brains of people with autism, and can involve large segments of DNA, according to two new studies.
![A mosaic made of different colors of maize (corn) kernels depicting DNA.](https://www.thetransmitter.org/wp-content/uploads/2021/01/Maize_DNA_mosaic-844.jpg)
Two studies highlight role of ‘mosaic’ mutations in autism
Mutations seen in only some of the body's cells often affect gene activity in the brains of people with autism, and can involve large segments of DNA, according to two new studies.
Autism, intellectual disability linked to levels of fragile X protein
People with particularly low levels of FMRP, the protein lacking in those with fragile X syndrome, are more likely to also have autism and severe intellectual disability.
![Adolescent has cheek swabbed](https://www.thetransmitter.org/wp-content/uploads/2020/10/20201026-FragileX.jpg)
Autism, intellectual disability linked to levels of fragile X protein
People with particularly low levels of FMRP, the protein lacking in those with fragile X syndrome, are more likely to also have autism and severe intellectual disability.
Machine learning flags ‘mosaic’ mutations that may contribute to autism
A new technique detects rare mutations that occur in only a subset of the body's cells.
![a pattern shows a helix-like form repeating in yellow on dark background.](https://www.thetransmitter.org/wp-content/uploads/2020/02/PatternDNA-844.jpg)
Machine learning flags ‘mosaic’ mutations that may contribute to autism
A new technique detects rare mutations that occur in only a subset of the body's cells.
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.