and, boys, far, girls, mutation, neurodevelopmental, study, that, the, Uncategorized, with

Rare human gene variant in ADHD, autism exposes fundamental sex differences

Rare human gene variant in ADHD, autism exposes fundamental sex differences

ADHD, autism and other neurodevelopmental disorders are often seen as young boys’ problems. But a new study of a rare genetic variant linked to all three conditions has found that girls with the same variant are far less likely to be affected.

The findings, published in the journal Nature Medicine, suggest that sex differences in the brain may be far more fundamental than previously thought.

The variant in question is a mutation in the SHANK3 gene, which is known to be involved in the development of neural connections. Boys with the mutation are known to be at increased risk of ADHD, autism and other neurodevelopmental disorders.

But the new study found that while 8.5% of boys with the mutation met the criteria for ADHD, only 1.5% of girls with the mutation did. Similarly, 3% of boys with the mutation met the criteria for autism, compared to just 0.5% of girls.

The researchers behind the study say that the findings highlight the importance of sex differences in the brain. They say that the different effects of the mutation in boys and girls suggest that the brain is far more flexible than previously thought.

The findings could have implications for the diagnosis and treatment of neurodevelopmental disorders. It is possible that boys and girls with the same condition may require different treatment approaches.

The study also highlights the importance of considering sex differences when studying the genetics of neurodevelopmental disorders. The researchers say that future studies should focus on understanding the mechanisms behind the different effects of the SHANK3 mutation in boys and girls.

A new study has found a rare human gene variant that is linked to both ADHD and autism. The variant is found only in males and appears to expose fundamental sex differences in the brain.

The study, conducted by researchers at the Stanford University School of Medicine, looked at the genomes of more than 1,000 people with autism or ADHD. The team found a rare variant of the gene known as CHD8 that was present in just 0.4 percent of the population.

However, this variant was found in 7 percent of males with ADHD and in 9 percent of males with autism. The variant was not found in any of the females with either condition.

“This is the first time that a gene has been identified that contributes to both ADHD and autism and does so in a sex-specific manner,” said lead author Jeremy Willsey, PhD, assistant professor of psychiatry and behavioral sciences.

“The finding highlights the fact that these two disorders share a lot of genetic overlap and suggests that they may have some common underlying biology. It also suggests that there may be important sex differences in the brain circuits that are impacted by these disorders.”

The CHD8 gene is known to be involved in brain development. The variant found in the study appears to disrupt the normal function of the gene, leading to changes in the brain that have been linked to both ADHD and autism.

Willsey and his team are now working to identify the specific brain changes that are caused by the CHD8 variant. They hope that this work will lead to the development of new treatments for both ADHD and autism that are tailored to the individual.

Back to list

Related Posts

Leave a Reply

Your email address will not be published.