Common genetic link between autism and Touret


image: This is an MRI of the brain.
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Credit: Lancaster University

Researchers at Lancaster University have discovered, for the first time, how a genetic alteration that increases the risk of developing autism and Tourette’s impacts on the brain.

Their research also suggests that ketamine, or related drugs, may be a useful treatment for both of these disorders.

Autism affects around 2.8 million people in the UK, while Tourette’s syndrome – a condition that causes a person to make involuntary sounds and movements called tics – affects around 300,000 people in the UK -United. The treatments available for both disorders are limited and new treatments are urgently needed. Recent research has also shown that these disorders are genetically linked.

People with a genetic deletion known as chromosome 2p16.3 deletion often have developmental delay and learning difficulties. They are also about 15 times more likely to develop autism and 20 times more likely to develop Gilles de la Tourette syndrome, but the mechanisms involved are not fully understood.

Using brain imaging studies, neuroscientists have shown that deletion of the gene affected by the 2p16.3 deletion (Neurexin1) impacts the function of brain regions involved in both conditions. A key finding is that this genetic deletion disrupts an area of ​​the brain known as the thalamus, compromising its ability to communicate with other areas of the brain.

Principal investigator Dr Neil Dawson of Lancaster University said: “We currently have a very poor understanding of how 2p16.3 deletion dramatically increases the risk of developing these disorders.

However, we do know that the 2p16.3 deletion involves the deletion of the Neurexin1 gene, a gene that makes a protein responsible for the efficient communication of neurons. ”

Deleting the Neurexin1 gene affects areas of the brain involved in autism and Tourette’s disease, including the thalamus, a collection of areas of the brain that play a key role in helping other areas of the brain communicate with each other. Changes have also been found in regions of the brain involved in processing sensory information and in learning and memory.

Importantly, the researchers also found that the ability of thalamic brain regions to communicate with other brain areas was altered by genetic deletion. They then tested the ability of a low dose of the drug ketamine, a drug used clinically in higher doses as an anesthetic, to normalize the alterations in brain function induced by the genetic deletion.

Dr Dawson said: “Surprisingly, our data suggest that ketamine may restore some aspect of brain dysfunction resulting from the suppression of 2p16.3 and suggest that ketamine, or other related drugs, may be useful in the treatment of some of the symptoms seen in autism and Tourette’s disease. The brain circuits affected suggest that these drugs may be particularly helpful for cognitive and motor problems experienced by people with these disorders. ”

Interestingly, ketamine has been shown to normalize activity in overactive thalamic regions due to genetic deletion and restore the ability of these regions to communicate with other areas of the brain. This suggests that ketamine, or related drugs, may be a useful treatment for people with 2p16.3 deletion or with autism and Gilles de la Tourette syndrome, although more research is needed.

Dr Dawson urges those considering the therapeutic use of ketamine for caution.

“While these data give us important new information about the brain circuits affected by the 2p16.3 deletion and the potential utility of ketamine in helping people with autism and Tourette, much more research needs to be done to prove its potential. We know that ketamine impacts the activity of several regions of the brain besides the thalamus, and the effects in these other regions are likely to cause unwanted side effects. In addition, long-term treatment with ketamine may have negative consequences that are not yet fully understood.Also thinks that ketamine may not be the best treatment option due to its relatively short lifespan in the body.

“However, the results of this study give us important clues regarding the types of drugs that may be useful in the treatment of these disorders, and we are using this information to actively pursue the validation of these drugs for the potential treatment of these disorders. ”


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