AANS Neurosurgeon | Volume 27, Number 2, 2018

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Scientists Learn More about How Gene Linked to Autism Affects Brain

Study Suggests Modulating CHD8 Might Help Some People with Complex Condition

 

New preclinical research shows a gene already linked to a subset of people with autism spectrum disorder is critical to healthy neuronal connections in the developing brain, and its loss can harm those connections to help fuel the complex developmental condition.

Scientists at Cincinnati Children’s Hospital Medical Center report their data clarify the biological role of the gene CHD8 and its protein CHD8 in developing oligodendrocytes, cells that form a protective insulation around nerves. The sheath supports neuronal connections in the brain and manifest themselves in white matter.

Although previous studies show disruptive mutations in CHD8 cause autism spectrum disorders (ASDs) and abnormalities in the brain’s white matter, the underlying biology has been a mystery. 

The current study shows that disruption of CHD8 hinders the production and maintenance of nerve insulation—harming the brain’s neuronal connections and contributing to white matter damage. In laboratory mouse models genetically engineered to not express the CHD8 protein in the oligodendrocytes, the animals exhibited behavioral anomalies and seizures, according to lead study investigator Q. Richard Lu, PhD, Division of Experimental Hematology and Cancer Biology.

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