22q11
Connectivity takes U-turn in people with rare autism-linked mutations
Patterns of brain connectivity shift during puberty in people with deletion of the 22q11.2 chromosomal region.
![Research image of brain activity](https://www.thetransmitter.org/wp-content/uploads/2024/05/1200_connectivity-1024x683.png)
Connectivity takes U-turn in people with rare autism-linked mutations
Patterns of brain connectivity shift during puberty in people with deletion of the 22q11.2 chromosomal region.
Genome structure could be key factor in some forms of autism
Variants in DNA stretches that do not code for proteins may alter the genome’s 3D architecture, influencing the expression of distant genes linked to autism.
![](https://www.thetransmitter.org/wp-content/uploads/2024/03/DNA-variants-mutations-811-1024x692.webp)
Genome structure could be key factor in some forms of autism
Variants in DNA stretches that do not code for proteins may alter the genome’s 3D architecture, influencing the expression of distant genes linked to autism.
Spotted around the web: Synthetic embryos; Angelman gene therapy
Here is a roundup of news and research for the week of 26 June.
Spotted around the web: Synthetic embryos; Angelman gene therapy
Here is a roundup of news and research for the week of 26 June.
‘Polygenic risk scores’ for autism, explained
These scores — composite measures of a person’s autism-linked common genetic variants — cannot predict an autism diagnosis but could help researchers better understand the condition’s underlying biology.
![Illustration of DNA methylation.](https://www.thetransmitter.org/wp-content/uploads/2023/05/844-polygenic-risk-scores-autism-explained.jpg)
‘Polygenic risk scores’ for autism, explained
These scores — composite measures of a person’s autism-linked common genetic variants — cannot predict an autism diagnosis but could help researchers better understand the condition’s underlying biology.
Brain signatures of rare variants hint at cardiovascular risk
People whose brains look like those of people who carry autism-linked copy number variants also share markers of heart health.
![Research diagram of brains viewed from overhead and in profile.](https://www.thetransmitter.org/wp-content/uploads/2023/03/844-CNVs-final-1.png)
Brain signatures of rare variants hint at cardiovascular risk
People whose brains look like those of people who carry autism-linked copy number variants also share markers of heart health.
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.
Autism’s genetic heterogeneity evident in brain connectivity patterns
The results highlight the importance of subgrouping study participants based on their underlying genetics, the researchers say.
![Conceptual illustration of a door leading from one area of the brain to another area of the brain.](https://www.thetransmitter.org/wp-content/uploads/2022/09/brain-connectivity-patterns-autism-genetic-heterogeneity-844.jpg)
Autism’s genetic heterogeneity evident in brain connectivity patterns
The results highlight the importance of subgrouping study participants based on their underlying genetics, the researchers say.
Chromosome 22 mutations leave telltale marks on brain development in autistic people
Many brain regions develop differently between people with 22q11.2 duplications and deletions, and those trajectories also vary with a person’s diagnosis.
![A large MRI scan of a human brain, with a grid of 15 smaller MRI scans to its left](https://www.thetransmitter.org/wp-content/uploads/2022/08/longitudinal-cortical-development-autism-844.jpg)
Chromosome 22 mutations leave telltale marks on brain development in autistic people
Many brain regions develop differently between people with 22q11.2 duplications and deletions, and those trajectories also vary with a person’s diagnosis.
Deletions on chromosome 22 have ripple effects across genome
Deletion of the 22q11.2 chromosomal region alters the expression of numerous autism- and schizophrenia-linked genes, most of which are not contained within the deleted region, a new study suggests.
![Concept illustration of DNA deletion: 2 DNA strands extend horizontally across a burnt orange background. The bottom is intact, while there are gaps in the top strand.](https://www.thetransmitter.org/wp-content/uploads/2022/07/22q11.2-region-gene-autism-844.jpg)
Deletions on chromosome 22 have ripple effects across genome
Deletion of the 22q11.2 chromosomal region alters the expression of numerous autism- and schizophrenia-linked genes, most of which are not contained within the deleted region, a new study suggests.
Myelin loss may explain how autism-linked DNA deletion affects cognition
Deleting a copy of the gene TBX1 depletes the fatty myelin insulation that surrounds neurons and reduces cognitive speed in mice.
![](https://www.thetransmitter.org/wp-content/uploads/2021/12/tbx1-844-1.jpg)
Myelin loss may explain how autism-linked DNA deletion affects cognition
Deleting a copy of the gene TBX1 depletes the fatty myelin insulation that surrounds neurons and reduces cognitive speed in mice.
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.