How CHD8 Mutations Contribute to Autism Spectrum Disorders

Research By Qing Richard Lu, PhD

Post Date: June 30, 2019 | Publish Date: June 18, 2018


This micrograph shows the presence of basic myelin protein and normal oligodendrocyte cell differentiation in the brain of a mouse. The cells form a protective sheath of insulation around nerves in the outer layers of the brain.

Scientists here have clarified how mutations in the gene CHD8 harm the brain and contribute to autism spectrum disorders. They reported their findings June 18, 2018, in Developmental Cell.

Previous studies had linked CHD8 mutations to autism and abnormalities in the brain’s white matter, but the underlying biology has been a mystery.

This study showed that disruption of CHD8 hinders production and maintenance of nerve insulation, harming the brain’s neuronal connections and contributing to white matter damage. Mice engineered to lack CHD8 protein in the oligodendrocytes—cells that produce the protective nerve sheath—exhibited behavioral anomalies and seizures, according to lead investigator Q. Richard Lu, PhD, Division of Experimental Hematology and Cancer Biology.

Although study results are early, Lu says the work could lead to treatments that restore function to faulty CHD8-dependent processes.

Publication Information

Original Title:Dual Requirement of CHD8 for Chromatin Landscape Establishment and Histone Methyltransferase Recruitment to Promote CNS Myelination and Repair
Published in:Developmental Cell
Publish date:June 18, 2018

Read the study

Research By

  • Qing Richard Lu, PhD

    Qing Richard Lu, PhD

    Scientific Director, Brain Tumor Center

    Research in Lu Lab aims to understand how distinct glial cell subtypes (oligodendrocytes, astrocytes and Schwann cells) in the central and peripheral nervous systems are generated, how they are regenerated after injury, and how their progenitors are transformed into cancerous cells under pathological conditions

About this blog

The Research Horizons blog features news and insights about the latest discoveries and innovations developed by the scientists of Cincinnati Children's. This blog does not provide medical advice, diagnosis, or treatment.